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Gene: Ctc1 MGI:1916214

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Gene Summary

Name:
CTS telomere maintenance complex component 1
Synonyms:
1500010J02Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ctc1tm1b(KOMP)Wtsi HOM   Early adult 3.18×10-06
decreased prepulse inhibition Ctc1tm1b(KOMP)Wtsi HET   Early adult 6.51×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Ctc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ctc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyskeratosis Congenita
Alopecia, Anemia, Abnormal eyebrow morphology, Cirrhosis, Premature graying of hair, Abnormal tes... ORPHA:1775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Premature graying of hair, Fine hair, Nail dysplasia, Bone marrow hypocellularity, Thromb... OMIM:612199

The table below shows human diseases predicted to be associated to Ctc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 1
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... OMIM:605389
Transcobalamin Deficiency
Decreased circulating total IgM, Abnormality of chromosome stability, Decreased circulating antib... ORPHA:859
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Fanconi Anemia, Complementation Group G
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Ataxia-Telangiectasia
Abnormality of chromosome stability, Premature graying of hair, Decreased circulating antibody le... ORPHA:100
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... OMIM:616435
Hypotrichosis 10
Sparse body hair, Sparse eyelashes, Sparse eyebrow OMIM:614238
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
N Syndrome
Abnormality of chromosome stability, Leukemia, Cryptorchidism OMIM:310465
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia OMIM:614931
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Fanconi Anemia, Complementation Group S
Anemia, Long eyelashes, Ovarian carcinoma, Chromosome breakage, Sparse hair, Low anterior hairlin... OMIM:617883
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology ORPHA:1008
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Chromosomal breakage induced ... OMIM:617243
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails OMIM:617294
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocell... OMIM:605724
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... ORPHA:1808
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, C... OMIM:275400
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anemia, Scarring alopecia of scalp, Anonychia, Nail dystrophy ORPHA:79402
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... ORPHA:59303
Revesz Syndrome
Abnormality of chromosome stability, Ridged fingernail, Fine hair, Nail pits, Bone marrow hypocel... OMIM:268130
Lig4 Syndrome
Abnormality of chromosome stability, Pancytopenia, Lymphadenopathy, Cryptorchidism, Leukocytosis,... ORPHA:99812
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Sparse scalp hair, Chromosomal breakage induced by crosslinkin... OMIM:620133
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Hypotrichosis 7
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... OMIM:604379
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai... ORPHA:1818
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:609054
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism ORPHA:85274
Fanconi Anemia, Complementation Group E
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Cry... OMIM:600901
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Icf Syndrome
Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, A... ORPHA:2268
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Fanconi Anemia, Complementation Group C
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Bon... OMIM:227645
Fanconi Anemia, Complementation Group A
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Cry... OMIM:227650
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... ORPHA:90368
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline ORPHA:79133
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair ORPHA:2251
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypopl... ORPHA:2930
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair, Cryptorchidism ORPHA:1174
Bloom Syndrome
Decreased circulating total IgM, Abnormality of chromosome stability, Azoospermia, Hypertrichosis... OMIM:210900
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho... ORPHA:202
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Thin nail, Absent eyebrow, Sparse hair, Nail dystrophy OMIM:618625
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Narrow nail, Spar... OMIM:224750
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair OMIM:129490
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair OMIM:619692
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Aplasia/Hypoplasia of the nails, Pan... ORPHA:33364
Fragile X Syndrome
Congenital macroorchidism, Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal OMIM:300624
Aredyld
Generalized hypotrichosis OMIM:207780
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Cryptorchidism, Decreased testicular size ORPHA:261483
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline OMIM:227260
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Fanconi Anemia, Complementation Group D2
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Bon... OMIM:227646
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... ORPHA:1433
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... ORPHA:113
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Alopecia, Sparse eyebrow, Hepatic fibrosis, Sclerosing cholangitis,... OMIM:607626
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair OMIM:234030
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... ORPHA:1809
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Periungual erythema, Lymphopenia, Nailfold capillary tortuosity, Follicular h... OMIM:615934
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair OMIM:607903
Fanconi Anemia, Complementation Group I
Neutropenia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, De... OMIM:609053
Nicolaides-Baraitser Syndrome
Alopecia, Abnormal testis morphology, Long eyelashes, Abnormal hair pattern, Highly arched eyebro... ORPHA:3051
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Alopecia, Cirrhosis, Premature graying of hair, Hepatic necrosis, Lymphopenia... OMIM:127550
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Trichodental Dysplasia
Slow-growing hair, Sparse hair, Fine hair, Brittle hair OMIM:601453
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Decreased circulating antibody level, Abnorm... ORPHA:1006
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes OMIM:616099
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Filippi Syndrome
Hypertrichosis, Frontal hirsutism, Sparse hair, Cryptorchidism OMIM:272440
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brittle hair, Decreased testicular size, Reduced hair sulfur ... OMIM:300953
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia, Abnormality of chromosome stability OMIM:300514
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anterior hypopituitarism ORPHA:181
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey... OMIM:613102
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Trichohepatoenteric Syndrome 2
Cirrhosis, Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Hepatomegaly, Chroni... OMIM:614602
Fanconi Anemia, Complementation Group F
Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Bone marrow hypocellul... OMIM:603467
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Gand Syndrome
Sparse hair OMIM:615074
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse scalp hair, Sparse eyelashes, Sparse hair, Slow-growing hair OMIM:618535
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair ORPHA:2850
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Sparse hair, Fine hair OMIM:615278
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair OMIM:104100
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Schöpf-Schulz-Passarge Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Ovarian neoplasm ORPHA:50944
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anemia, Abnormality of the pancreas, Abnormality of chromosome stability, Decreas... ORPHA:175
Noonan Syndrome 6
Curly hair, Long eyebrows, Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairli... OMIM:613224
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Absent facial hair, Sparse facial hair, Low posterior hairline ORPHA:2183
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Focal Facial Dermal Dysplasia Type Iii
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... ORPHA:1807
Dermoodontodysplasia
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia ORPHA:1660
Fanconi Anemia, Complementation Group L
Chromosome breakage, Anemia, Chromosomal breakage induced by crosslinking agents, Bone marrow hyp... OMIM:614083
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anemia, Fair hair, Sparse facial hair, Lymphopenia, Fine hair, Impaired lymphocyt... OMIM:250250
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Abnormal hair... ORPHA:647
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Small nail, Aplasia/Hypoplasia of the eyebrow, Pancytopenia, Bone marrow ... OMIM:617052
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... OMIM:234050
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Absent eyebrow... ORPHA:69735
Braddock-Carey Syndrome 1
Thrombocytopenia, Curly hair, Sparse hair OMIM:619980
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Curly hair, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair OMIM:620075
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyelashes, Alopecia of scalp, Absent eyebrow, Sparse hair, Dystrophic fingernails, Nail dy... OMIM:604536
Progeroid Syndrome, Petty Type
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... ORPHA:2963
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair OMIM:619691
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Folate-dependent fragile site ... ORPHA:85327
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair OMIM:615896
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... OMIM:225060
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair OMIM:301845
Intellectual Developmental Disorder, Autosomal Recessive 5
Synophrys, Thick eyebrow, Sparse hair OMIM:611091
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Sparse hair, Fine hair ORPHA:251019
Cardiofaciocutaneous Syndrome 4
Curly hair, Decreased response to growth hormone stimulation test, Alopecia of scalp, Absent eyeb... OMIM:615280
Hypotrichosis 12
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline OMIM:616819
Adams-Oliver Syndrome
Leukopenia, Alopecia, Cirrhosis, Absent fingernail, Hypoplastic fingernail, Portal hypertension, ... ORPHA:974
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl, Cryptorchidism ORPHA:2872
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology ORPHA:1515
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Coarse hair, Breast aplasia, Supernumerary nipple, Fine hair... OMIM:308300
Trichohepatoenteric Syndrome 1
Splenomegaly, Curly hair, Trichorrhexis nodosa, Hepatic fibrosis, Cirrhosis, Decreased circulatin... OMIM:222470
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Hepatomegaly ORPHA:1133
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Sparse hair, Bone marrow hypocellularity OMIM:616353
Dyskeratosis Congenita
Alopecia, Anemia, Abnormal eyebrow morphology, Cirrhosis, Premature graying of hair, Abnormal tes... ORPHA:1775
Even-Plus Syndrome
Synophrys, Sparse hair, Highly arched eyebrow OMIM:616854
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia, Sparse hair OMIM:618253
Mirage Syndrome
Leukopenia, Anemia, Decreased testicular size, Lymphopenia, Thrombocytopenia, Cryptorchidism, Hyp... OMIM:617053
Rapp-Hodgkin Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... OMIM:129400
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair, Cryptorchidism OMIM:616817
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:261304
Trichothiodystrophy 1, Photosensitive
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Fine hair, Fragil... OMIM:601675
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:211390
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, Sparse hair, Macroorchidism ORPHA:284180
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Joubert Syndrome 37
Decreased testicular size, Sparse hair, Hepatomegaly, Cryptorchidism OMIM:619185
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai... ORPHA:1787
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Low anterior hairline, Fine hair ORPHA:391408
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Intellectual Developmental Disorder, Autosomal Dominant 65
Synophrys, Thin eyebrow, Sparse hair, Low posterior hairline OMIM:619320
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Dystrophic toenail, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse lateral eyebrow, Pili tor... ORPHA:3253
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Increased circulating gonadotropin level, Decreased testicular size, Cryptorchi... OMIM:300869
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Absent nipple, Abs... OMIM:614941
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Sparse facial hair OMIM:608154
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:242300
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyelashes, Decreased testicular size, Absent eyebrow, Sparse hair OMIM:147770
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hamamy Syndrome
Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Hypochromic anemia, Hypop... OMIM:611174
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Premature graying of hair, Fine hair, Nail dysplasia, Bone marrow hypocellularity, Thromb... OMIM:612199
Lelis Syndrome
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Abnormal toenail morphology, Sparse... ORPHA:140936
Fanconi Anemia
Leukopenia, Anemia, Abnormality of the liver, Abnormality of chromosome stability, Abnormal testi... ORPHA:84
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Noonan Syndrome 14
Sparse eyebrow, Curly hair, Lymphopenia, Cryptorchidism, Low posterior hairline, Sparse hair OMIM:619745
Riddle Syndrome
Decreased circulating total IgM, Chromosomal breakage induced by ionizing radiation, Generalized ... ORPHA:420741
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Nail dysplasia, Cryptorchidism, Sparse h... ORPHA:217346
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Hepatic fibrosis, Decreased circulating total IgM, Exocrine pancreatic insufficiency, Lym... OMIM:620005
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Hypoplas... OMIM:258360
Jaberi-Elahi Syndrome
Sparse eyebrow, Brittle hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:617988
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Nail dysplasia, Eosinophilia, Coarse hair, Sparse hair... OMIM:158310
Tetrasomy 12P
Sparse eyebrow, Sparse hair ORPHA:884
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Johnson Neuroectodermal Syndrome
Absent eyelashes, Alopecia, Absent eyebrow, Sparse hair ORPHA:2316
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... OMIM:300291
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Autoimmune hemolytic anemia, Alopecia of... ORPHA:436252
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Hypotrichosis 14
Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair OMIM:618275
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Leukonychia, Thin eyebrow, Fine hair, Thin nail, Concave nail, Sparse hai... OMIM:190350
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Thick eyebrow, Sparse hair, Cryptorchidism ORPHA:127
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Pearson Syndrome
Anemia, Abnormality of the liver, Decreased response to growth hormone stimulation test, Macronod... ORPHA:699
Lysinuric Protein Intolerance
Leukopenia, Anemia, Pancreatitis, Fine hair, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Sp... OMIM:222700
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Sparse hair, Hypoplastic nipples OMIM:273400
Olmsted Syndrome 1
Alopecia universalis, Nail dysplasia, Subungual hyperkeratosis, Sparse hair, Nail dystrophy OMIM:614594
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism OMIM:219150
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Absent eyelashes, Supernumerary nipple, Hyperconvex nail, Patchy alopecia, Spar... OMIM:106260
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Rothmund-Thomson Syndrome
Sparse eyebrow, Anemia, Small nail, Abnormality of the nail, Alopecia totalis, Nail dysplasia, Sp... ORPHA:2909
Cardiofaciocutaneous Syndrome 1
Curly hair, Absent eyelashes, Absent eyebrow, Low posterior hairline, Sparse hair, Splenomegaly, ... OMIM:115150
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Cirrhosis, Fragile nails, Sparse hair OMIM:242150
Monosomy 22
Synophrys, Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus, Sparse hair ORPHA:96123
Trichorhinophalangeal Syndrome Type 1 And 3
Sparse eyebrow, Leukonychia, Fragile nails, Sparse eyelashes, Sparse hair ORPHA:77258
Down Syndrome
Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Sparse hair ORPHA:870
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Sparse hair OMIM:268020
Bainbridge-Ropers Syndrome
Synophrys, Thin eyebrow, Long eyelashes, Supernumerary nipple, Hirsutism, Highly arched eyebrow, ... OMIM:615485
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyebrow, Nail dysplasia, Cryptorchidism, Sparse eyelashes, Sparse hair OMIM:613026
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Sparse hair, Lymphopenia, Cryptorchidism OMIM:616541
Scarf Syndrome
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair ORPHA:3134
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Aplasia/Hypoplasia of the eyebrow, Fine hair, Nail dysplasia, Sparse hair OMIM:614091
Agel Amyloidosis
Abnormal spleen morphology, Sparse hair, Nail dystrophy ORPHA:85448
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Lamellar Ichthyosis
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormality of the nail ORPHA:313
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Brittle hair, Fine hair, Abnormal eyelash morphology, Cryptorc... ORPHA:1340
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... OMIM:257980
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair OMIM:190351
Frontonasal Dysplasia 2
Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Decreased testicular size ORPHA:2234
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Hepatosplenomegaly, Juvenile myelomonocytic leukemia, Cryptorchidism, Highly arched ey... OMIM:613563
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Sparse scalp hair, Premature graying of hair, Absent eyelashes, Absent ... OMIM:268400
Rothmund-Thomson Syndrome Type 1
Anemia, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Nail dysplasia, Cryptorchidism, Apla... ORPHA:221008
Macs Syndrome
Alopecia, Sparse hair, Sparse eyebrow, Cryptorchidism OMIM:613075
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Absent nipple, Fine hair, Absen... OMIM:305100
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Cryptorchidism OMIM:601186
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Ruijs-Aalfs Syndrome
Sparse hair, Hepatocellular carcinoma, Premature graying of hair OMIM:616200
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Aplasia of the sweat glands, Hepatomegaly, Sparse hair, Splenomegaly OMIM:612132
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Aplasia of the ovary, Sparse facial hair, ... ORPHA:2232
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse hair, Sparse eyebrow OMIM:224900
Rothmund-Thomson Syndrome Type 2
Anemia, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Nail dysplasia, Cryptorchidism, Apla... ORPHA:221016
Papillon-Lefèvre Syndrome
Sparse body hair, Liver abscess, Abnormality of the nail, Abnormal fingernail morphology, Nail dy... ORPHA:678
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Sparse hair, Cryptorchidism OMIM:602613
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Alopecia, Sparse hair ORPHA:659
Meningioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior... ORPHA:2495
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Hirsutism, Sparse hair, Long eyelashes OMIM:212066
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Nablus Mask-Like Facial Syndrome
Sparse eyebrow, Frontal upsweep of hair, Absent eyelashes, Highly arched eyebrow, Cryptorchidism,... OMIM:608156
Gapo Syndrome
Alopecia, Sparse eyebrow, Nail dysplasia, Hepatomegaly, Sparse eyelashes, Hypoplastic nipples, Sp... OMIM:230740
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Spa... ORPHA:2710
Mandibuloacral Dysplasia
Hypoplastic fingernail, Alopecia, Sparse hair ORPHA:2457
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Sparse hair, Fine hair, Cryptorchidism ORPHA:251028
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Curly hair, Sparse lateral eyebrow, Coarse hair, Cryptorchidism, Highly a... OMIM:617506
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Hallermann-Streiff Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Cryptorchidism, Abdominal situs inversus, Sparse eyel... ORPHA:2108
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse hair, Sparse eyebrow, Patchy alopecia OMIM:302960
Scarf Syndrome
Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Sparse hair, Low anterior hairline OMIM:312830
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Abnormality of the nail, Ab... ORPHA:1010
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair OMIM:250410
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair, Cryptorchidism OMIM:614438
Oligodontia-Colorectal Cancer Syndrome
Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes OMIM:608615
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hypoplastic nipples, Acute lymphoblastic leukemia, Sparse hair, Fine hair OMIM:280000
Cranioectodermal Dysplasia 2
Sparse eyebrow, Biliary cirrhosis, Polysplenia, Portal fibrosis, Cholangitis, Bile duct prolifera... OMIM:613610
Weaver Syndrome
Hydrocele testis, Fine hair, Deep-set nails, Thin nail, Cryptorchidism, Sparse hair OMIM:277590
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic toenail, Sparse eyebrow, Supernumerary nipple, Hyperconvex nail, Hyperconvex fingernai... ORPHA:1071
White-Sutton Syndrome
Sparse hair OMIM:616364
Marshall Syndrome
Sparse eyelashes, Sparse hair, Sparse eyebrow ORPHA:560
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Brittle hair, Hepatomegaly, Sparse hair, Splenomegaly OMIM:252500
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Hallermann-Streiff Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Cryptorchidism, Sparse eyelashes, Sparse hair OMIM:234100
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Oligospermia, Nail dysplasia, Sparse hair, Breast hypoplasia OMIM:614813
Nicolaides-Baraitser Syndrome
Dry hair, Sparse scalp hair, Long eyelashes, Sparse medial eyebrow, Absent eyebrow, Cryptorchidis... OMIM:601358
Glass Syndrome
Nail dysplasia, Long eyelashes, Sparse hair OMIM:612313
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha... OMIM:129900
Osteogenesis Imperfecta, Type Xx
Sparse lateral eyebrow, Sparse hair, Highly arched eyebrow OMIM:618644
Cranioectodermal Dysplasia 3
Cirrhosis, Short nail, Fine hair, Broad nail, Sparse hair OMIM:614099
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Cryptorchidism, Sparse hair OMIM:607721
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia, Sparse hair, Thin nail OMIM:617799
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Toenail dysplasia, Synophrys, Hirsutism, Sparse hair OMIM:300966
Marshall-Smith Syndrome
Brittle hair, Synophrys, Bilateral cryptorchidism, Highly arched eyebrow, Cryptorchidism, Thick e... OMIM:602535
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Hypoplasia... ORPHA:432
Cockayne Syndrome B
Dry hair, Hepatomegaly, Cryptorchidism, Abnormal hair morphology, Sparse hair, Splenomegaly OMIM:133540
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, Abnormal intra... ORPHA:363618
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Subungual hyperkeratosis,... OMIM:601214
Cockayne Syndrome A
Dry hair, Hepatomegaly, Cryptorchidism, Thymic hormone decreased, Sparse hair, Splenomegaly OMIM:216400
Opitz-Kaveggia Syndrome
Frontal upsweep of hair, Sparse hair, Fine hair, Cryptorchidism OMIM:305450
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Decreased response to growth hormone stimulation test OMIM:614114
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Kid Syndrome
Sparse eyebrow, Trichilemmoma, Scarring alopecia of scalp, Onychogryposis, Sparse eyelashes, Spar... ORPHA:477
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Orofaciodigital Syndrome I
Pancreatic cysts, Alopecia, Hepatic fibrosis, Dry hair, Hepatic cysts, Ovarian cyst, Sparse hair OMIM:311200
Goldberg-Shprintzen Syndrome
Synophrys, Thick eyebrow, Sparse hair, Highly arched eyebrow OMIM:609460
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Brittle hair, Coarse hair OMIM:607812
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair, Cryptorchidism ORPHA:444072
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Breast aplasia, Fine hair, Sparse pubic hair, Nail dysplasia, Patchy alopec... OMIM:181270
Oculodentodigital Dysplasia
Dry hair, Fine hair, Fragile nails, Sparse hair, Slow-growing hair OMIM:164200
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Sparse hair OMIM:601812
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Alopecia, Abnormality of the pancreas, Brittle hair, Coarse hair, Exocrine panc... ORPHA:2750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Cranioectodermal Dysplasia 1
Hepatic fibrosis, Short nail, Fine hair, Thin nail, Malformation of the hepatic ductal plate, Hep... OMIM:218330
Leprosy
Sparse body hair, Alopecia, Abnormality of the liver, Testicular mass, Absent eyebrow, Abnormalit... ORPHA:548
De Barsy Syndrome
Sparse hair, Cryptorchidism ORPHA:2962
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Chime Syndrome
Acute leukemia, Sparse hair, Fine hair ORPHA:3474
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Sparse hair OMIM:244450
Stuve-Wiedemann Syndrome 1
Sparse hair OMIM:601559
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Macrovesicular hepatic steatosis, Elevated hemoglobin A1c, Hepatomegaly, Sparse h... OMIM:619127
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair OMIM:615508
Ablepharon Macrostomia Syndrome
Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair pattern, Sparse hair, Breast hypoplasia ORPHA:920
Roberts Syndrome
Thrombocytopenia, Sparse hair, Cryptorchidism ORPHA:3103
Tooth Agenesis, Selective, 4
Sparse body hair, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Short eyelashes, Dystrop... OMIM:150400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Anterior pituitary hypoplasia, Synophr... OMIM:619841
Menkes Disease
Hypopigmentation of hair, Prolonged neonatal jaundice, Sparse hair, Woolly hair ORPHA:565
Hawkinsinuria
Sparse hair OMIM:140350
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism OMIM:300661
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... OMIM:241080
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Sparse hair, Cryptorchidism OMIM:151050
Atypical Werner Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Premature graying of h... ORPHA:79474
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse body hair, Enlarged polycystic ovaries, Decreased testicular size, Sparse axillary hair, S... ORPHA:90796
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Thin eyebrow, Abnormality of the nail, Hypoplastic fingernail, Thin fingernail, Absent ... ORPHA:2273
Costello Syndrome
Lymphangiectasis, Curly hair, Deep-set nails, Thin nail, Fragile nails, Concave nail, Sparse hair OMIM:218040
Myhre Syndrome
Thick eyebrow, Sparse hair, Fine hair, Cryptorchidism OMIM:139210
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Sparse hair OMIM:619934
Focal Dermal Hypoplasia
Brittle hair, Absent toenail, Absent fingernail, Supernumerary nipple, Ridged nail, Nail dysplasi... OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Sparse scalp hair, Fine hair, Cryptorchidism, Sparse eyelashes, Prolonged neonata... OMIM:210710
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Sparse hair, Breast aplasia ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Thin eyebrow, Sparse hair, Cryptorchidism, Loss of eyelashes ORPHA:2636
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal hirsutism, Sparse hair, Pseudohypoparathyroidism OMIM:617157
Renpenning Syndrome 1
Sparse lateral eyebrow, Decreased testicular size, Sparse hair, Brittle hair OMIM:309500
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Aplasia/Hypoplasia of the nails, Sparse scalp hair... ORPHA:3455
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Hypoplastic fingernail, Absent eyebrow, Hypoplastic nipples, Sparse hair OMIM:200110
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Sparse hair, Nail dystrophy ORPHA:158668
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Bilateral cryptorchidism, Alopecia of scalp, Fragile nails, Thick eyebrow, Spa... OMIM:150230
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Sparse hair, Cryptorchidism OMIM:616682
Restrictive Dermopathy
Sparse eyebrow, Short nail, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse hair, Sparse ... ORPHA:1662
Branchiooculofacial Syndrome
Ectopic thymus tissue, Premature graying of hair, Supernumerary nipple, Hypoplastic fingernail, W... OMIM:113620
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Sparse scalp hair, Sparse hair OMIM:606721
Menke-Hennekam Syndrome 1
Thick eyebrow, Sparse hair, Long eyelashes, Cryptorchidism OMIM:618332
Wrinkly Skin Syndrome
Fragile nails, Sparse hair, Short nail, Cryptorchidism OMIM:278250
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Sparse hair OMIM:619869
Roberts-Sc Phocomelia Syndrome
Sparse hair, Accessory spleen, Biliary tract abnormality, Cryptorchidism OMIM:268300
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism ORPHA:2834
Primrose Syndrome
Sparse body hair, Sparse scalp hair, Synophrys, Bilateral cryptorchidism, Absent facial hair, Cry... OMIM:259050
Pallister-Killian Syndrome
Sparse eyebrow, Alopecia, Sparse scalp hair, Sparse anterior scalp hair, Supernumerary nipple, Cr... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ctc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ctc1.

No publications found that use IMPC mice or data for Ctc1.

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MGI Allele Allele Type Produced
Ctc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ctc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ctc1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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