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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 Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

28 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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X-ray

XRay Images Whole Body Lateral Orientation

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
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai... ORPHA:1775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d... 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 eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Decreased cir... ORPHA:859
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... OMIM:616435
Ataxia-Telangiectasia
Abnormality of chromosome stability, Hypopigmentation of hair, Decreased circulating antibody lev... ORPHA:100
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Fanconi Anemia, Complementation Group S
Chromosome breakage, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, ... OMIM:617883
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... OMIM:605724
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellu... OMIM:268130
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocytosis, Lo... ORPHA:99812
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... OMIM:620133
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... OMIM:275400
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... ORPHA:3363
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Sparse body hair ORPHA:85274
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... OMIM:600901
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... OMIM:210900
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Fanconi Anemia, Complementation Group C
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... OMIM:227645
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... OMIM:227650
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia OMIM:617244
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplas... ORPHA:2930
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Increased... ORPHA:33364
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... ORPHA:202
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
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
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Decreased testicular size, Sparse body hair ORPHA:261483
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia OMIM:613951
Aredyld
Generalized hypotrichosis OMIM:207780
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Chromosomal b... OMIM:609053
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Thrombocytopenia, Chromosomal breakage induced by crosslinking agen... OMIM:227646
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Chromoso... OMIM:603467
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, Long eye... ORPHA:3051
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Follicular hyperplasia, Increased circulating IgA level, Paratrach... OMIM:615934
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Hepatic necrosis, Anemia, Leukopenia, Prematur... OMIM:127550
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair... OMIM:300953
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Filippi Syndrome
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis OMIM:272440
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Decreased circulating antibody level, Sparse hair, Sparse body hair,... ORPHA:1006
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... OMIM:614083
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Sparse eyebrow, Abnormality of the pancreas, D... ORPHA:175
Gand Syndrome
Sparse hair OMIM:615074
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... OMIM:614602
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome ... ORPHA:647
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Fg Syndrome 3
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:300406
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Cryptorchidism, Abnormal hair whorl ORPHA:2872
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Thick eyebrow OMIM:611091
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... ORPHA:974
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... OMIM:222470
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai... ORPHA:1775
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicul... OMIM:617053
Even-Plus Syndrome
Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Neutropenia OMIM:618253
Aredyld Syndrome
Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly ORPHA:1133
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Nail dystrophy, Alopecia, Bone marrow hypocellularity OMIM:616353
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Cryptorchidism, Fine hair OMIM:616817
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... OMIM:601675
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High anterior hairline, Sparse hair, Polycystic ovaries ORPHA:284180
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Chromosomal breakage induced by ion... ORPHA:420741
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Joubert Syndrome 37
Sparse hair, Cryptorchidism, Decreased testicular size, Hepatomegaly OMIM:619185
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased testicular size, Sparse body ... OMIM:300869
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Cryptorchidism, ... ORPHA:84
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d... OMIM:612199
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... OMIM:611174
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... ORPHA:217346
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Tetrasomy 12P
Sparse hair, Sparse eyebrow ORPHA:884
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Nail dystrophy,... ORPHA:436252
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow ORPHA:127
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism OMIM:219150
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Pancrea... OMIM:222700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Cirrhosis, Fragile nails OMIM:242150
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair ORPHA:96123
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
Rothmund-Thomson Syndrome
Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Neutropenia, Spa... ORPHA:2909
Down Syndrome
Sparse hair, Abnormality of the lymphatic system, Acute megakaryocytic leukemia ORPHA:870
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Cryptorchidism, Lymphopenia, Anemia OMIM:616541
Scarf Syndrome
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair ORPHA:3134
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Bainbridge-Ropers Syndrome
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes... OMIM:615485
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair OMIM:613026
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Polycystic ovaries OMIM:268020
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... OMIM:613563
Lamellar Ichthyosis
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Agel Amyloidosis
Sparse hair, Abnormal spleen morphology, Nail dystrophy ORPHA:85448
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair ORPHA:2234
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... ORPHA:1340
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Absent hair OMIM:614940
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia... ORPHA:221008
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ... OMIM:305100
Macs Syndrome
Sparse hair, Cryptorchidism, Alopecia, Sparse eyebrow OMIM:613075
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair OMIM:612132
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair, Hepatocellular carcinoma OMIM:616200
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia... ORPHA:221016
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Non-obstructive azoosper... ORPHA:2232
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse bo... ORPHA:678
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... OMIM:617506
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair ORPHA:251028
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism OMIM:212066
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... ORPHA:2108
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Cryptorchidism, Fine hair OMIM:614438
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair OMIM:277590
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Cranioectodermal Dysplasia 2
Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, Biliary cirrhosis, Cho... OMIM:613610
White-Sutton Syndrome
Sparse hair OMIM:616364
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair OMIM:234100
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow ORPHA:560
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Sparse eyebrow, Splenomegaly, Sparse hair OMIM:252500
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior... OMIM:601358
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia OMIM:614813
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail, Neutropenia OMIM:617799
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Prolonged neonatal jaundi... OMIM:620186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Cryptorchidism, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism OMIM:300966
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:129900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Sparse ... OMIM:602535
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Highly arched eyebrow, Fine hair, Hydrocele testis, Acute lymphoblastic leukemia, H... OMIM:280000
Cockayne Syndrome B
Hepatomegaly, Dry hair, Abnormal hair morphology, Splenomegaly, Cryptorchidism, Sparse hair OMIM:133540
Opitz-Kaveggia Syndrome
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:305450
Cockayne Syndrome A
Hepatomegaly, Dry hair, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Sparse hair OMIM:216400
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... ORPHA:363618
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Cryptorchidism, Breast hypoplasia, Azoospermia, Hypoplasia of the ov... ORPHA:432
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... ORPHA:477
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Decreased response to growth hormone stimulation test OMIM:614114
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Cerebellar-Facial-Dental Syndrome
Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair ORPHA:444072
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts OMIM:311200
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Increased circulating IgE level OMIM:615508
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancreas, Coarse hair, Sparse hair, ... ORPHA:2750
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Abnormal... ORPHA:548
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Cranioectodermal Dysplasia 1
Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Malformation of the hepatic ductal plate,... OMIM:218330
De Barsy Syndrome
Sparse hair, Cryptorchidism ORPHA:2962
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Chime Syndrome
Sparse hair, Fine hair, Acute leukemia ORPHA:3474
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Sparse eyebrow OMIM:244450
Stuve-Wiedemann Syndrome 1
Sparse hair OMIM:601559
Premature Aging Syndrome, Penttinen Type
Sparse hair OMIM:601812
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia ORPHA:920
Roberts Syndrome
Sparse hair, Cryptorchidism, Thrombocytopenia ORPHA:3103
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Macrovesicular hepatic ste... OMIM:619127
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc... OMIM:619841
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice ORPHA:565
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism OMIM:300661
Hawkinsinuria
Sparse hair OMIM:140350
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia OMIM:151050
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged polycystic ovaries... ORPHA:90796
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm... ORPHA:79474
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Abnormal ... ORPHA:2273
Myhre Syndrome
Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair OMIM:139210
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Lymphangiectasis, Fragile nails OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis OMIM:619934
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Hypoplastic nip... OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Prolonged neonata... OMIM:210710
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Decreased testicular size, Fine hair OMIM:241080
Scalp-Ear-Nipple Syndrome
Sparse hair, Abnormal fingernail morphology, Breast aplasia ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair ORPHA:2636
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism, Pseudohypoparathyroidism OMIM:617157
Renpenning Syndrome 1
Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow OMIM:309500
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Decreased response to growth hormone stimulation test, Cryptorchidism, Synophr... ORPHA:3455
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail OMIM:200110
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Bilateral cryptorchidism, Sparse hair, Alopecia of scalp, Fragi... OMIM:150230
Restrictive Dermopathy
Short nail, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyebrow, Sparse or absent eye... ORPHA:1662
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Nail dystrophy, Alopecia universalis ORPHA:158668
Branchiooculofacial Syndrome
Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... OMIM:113620
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Cryptorchidism, Nail dysplasia OMIM:616682
Lipodystrophy, Familial Partial, Type 7
Sparse hair, Sparse scalp hair, Recurrent pancreatitis OMIM:606721
Menke-Hennekam Syndrome 1
Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow OMIM:618332
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism, Short nail, Fragile nails OMIM:278250
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cryptorchidism, Biliary tract abnormality, Sparse hair OMIM:268300
Neurocardiofaciodigital Syndrome
Sparse hair, Sparse eyebrow OMIM:619869
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism ORPHA:2834
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Absen... OMIM:259050
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Cryptorchidi... 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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