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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
decreased prepulse inhibition Ctc1tm1b(KOMP)Wtsi HET   Early adult 6.51×10-06
preweaning lethality, complete penetrance Ctc1tm1b(KOMP)Wtsi HOM   Early adult 3.18×10-06

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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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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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
Bone marrow hypocellularity, Alopecia, White hair, Premature graying of hair, Abnormal fingernail... ORPHA:1775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia... 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 pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b... OMIM:616435
N Syndrome
Leukemia, Abnormality of chromosome stability, Cryptorchidism OMIM:310465
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Ataxia-Telangiectasia
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Premature graying of hair,... ORPHA:100
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone... OMIM:609981
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Fanconi Anemia, Complementation Group S
Sparse hair, Chromosome breakage, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Anemi... OMIM:617883
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Chromo... OMIM:605724
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation OMIM:613078
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol... OMIM:617052
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, Chr... OMIM:620133
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Cryptorchidism, ... ORPHA:99812
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased c... ORPHA:2268
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Anemia ORPHA:79402
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Decreased circulating IgG level, Hypopituitarism, Increased circulating IgE level, D... ORPHA:98813
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Hypert... OMIM:210900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... ORPHA:3363
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:600901
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Sparse body hair ORPHA:85274
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617244
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... OMIM:227645
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:227650
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp... ORPHA:2930
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Increased mean corpuscular hemoglobin concentration, Panhypogamm... ORPHA:33364
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair OMIM:618625
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Biliary atresia OMIM:615272
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr... OMIM:224750
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... ORPHA:202
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Sparse body hair ORPHA:261483
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Aredyld
Generalized hypotrichosis OMIM:207780
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Chromosomal b... OMIM:609053
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... OMIM:607626
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C... OMIM:603467
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Abnormal fingernail morphology, Supernumerary nipple, Abnormal toenail morpholo... ORPHA:1809
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchidism, Abnormal hair p... ORPHA:3051
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy, Increased circulating IgA level,... OMIM:615934
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat... OMIM:127550
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair sulfur content, Panhypopituitari... OMIM:300953
Cartilage-Hair Hypoplasia
Sparse eyebrow, Abnormality of chromosome stability, Decreased circulating antibody level, Hepato... ORPHA:175
Alopecia Antibody Deficiency
Sparse body hair, Decreased circulating antibody level, Aplasia/Hypoplasia of the eyebrow, Abnorm... ORPHA:1006
Filippi Syndrome
Frontal hirsutism, Sparse hair, Cryptorchidism, Hypertrichosis OMIM:272440
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anterior hypopituitarism, Sparse body hair ORPHA:181
Fanconi Anemia, Complementation Group L
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Chromos... OMIM:614083
Gand Syndrome
Sparse hair OMIM:615074
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Chronic hepatitis, Cirrhosis, Uncombable hair, Brittle hair, H... OMIM:614602
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Abnormal hair morphology, Autoimmune hemolyt... ORPHA:647
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairline, Curly hair, Long eyebro... OMIM:613224
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Distichiasis, Abnormal hair pattern, Sparse hair, ... ORPHA:1807
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Azoospermia, Sparse facial hair ORPHA:2183
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyelashes, Sparse fa... OMIM:250250
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Sparse hair, Anterior hypopituitarism ORPHA:631
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair ORPHA:1660
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Aplastic anemia OMIM:610832
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Curly hair, Sparse hair, Synophrys OMIM:620075
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Abnormality of the lymphatic system, Absent eyelashes, Absent eyebrow... ORPHA:69735
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair OMIM:300406
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Braddock-Carey Syndrome 1
Sparse hair, Thrombocytopenia, Curly hair OMIM:619980
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Sparse hair, Fine hair ORPHA:251019
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... OMIM:604536
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Alopecia of scalp, Sparse eyelashes, Absen... OMIM:615280
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Thick eyebrow, Synophrys OMIM:611091
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Sparse hair, Cryptorchidism ORPHA:2872
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, A... ORPHA:974
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology ORPHA:1515
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Dyskeratosis Congenita
Bone marrow hypocellularity, Alopecia, White hair, Premature graying of hair, Abnormal fingernail... ORPHA:1775
Trichohepatoenteric Syndrome 1
Sparse hair, Hepatic fibrosis, Fine hair, Trichorrhexis nodosa, Cholestasis, Curly hair, Splenome... OMIM:222470
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Revesz Syndrome
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macro... OMIM:268130
Mirage Syndrome
Lymphopenia, Decreased testicular size, Leukopenia, Cryptorchidism, Thrombocytopenia, Anemia, Hyp... OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Neutropenia OMIM:618253
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Aredyld Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Sparse body hair ORPHA:1133
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Cryptorchidism, Fine hair OMIM:616817
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding,... OMIM:601675
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, Ch... ORPHA:420741
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Sparse hair, High anterior hairline, Polycystic ovaries ORPHA:284180
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Joubert Syndrome 37
Hepatomegaly, Decreased testicular size, Sparse hair, Cryptorchidism OMIM:619185
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse... ORPHA:1787
Fanconi Anemia
Abnormality of chromosome stability, Azoospermia, Leukopenia, Abnormality of the liver, Cryptorch... ORPHA:84
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Fine hair, Low anterior hairline ORPHA:391408
Intellectual Developmental Disorder, Autosomal Dominant 65
Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys OMIM:619320
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... ORPHA:3253
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo... OMIM:614941
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Sparse facial hair OMIM:608154
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy OMIM:242300
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Sparse hair, A... ORPHA:140936
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased testicular size, Cryptorchidism, Sparse body ... OMIM:300869
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Bilateral cryptorchidism OMIM:278800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia... OMIM:612199
Hamamy Syndrome
Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Microcytic anemia, Abnormal number of... OMIM:611174
Noonan Syndrome 14
Sparse eyebrow, Lymphopenia, Cryptorchidism, Low posterior hairline, Curly hair, Sparse hair OMIM:619745
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Cryptorchidi... ORPHA:217346
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Eosinophi... OMIM:158310
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... OMIM:258360
Tetrasomy 12P
Sparse eyebrow, Sparse hair ORPHA:884
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA leve... OMIM:300291
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Alopecia of scalp, Autoimmune hemolytic anemia, Nail dystrophy, Hy... ORPHA:436252
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Johnson Neuroectodermal Syndrome
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow ORPHA:2316
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Sparse hair, Cryptorchidism, Thick eyebrow ORPHA:127
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism OMIM:219150
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Lysinuric Protein Intolerance
Hemophagocytosis, Fine hair, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopen... OMIM:222700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Pearson Syndrome
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... ORPHA:699
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Alopecia, Sparse hair, Fragile nails OMIM:242150
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:614594
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Sparse hair, Synophrys ORPHA:96123
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly ... OMIM:115150
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails ORPHA:77258
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Sparse hair, Polycystic ovaries OMIM:268020
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Sparse hair, Cryptorchidism OMIM:616541
Rothmund-Thomson Syndrome
Sparse eyebrow, Aplastic anemia, Small nail, Alopecia totalis, Sparse eyelashes, Nail dysplasia, ... ORPHA:2909
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thick eyebrow, Cryptor... OMIM:615485
Ifap Syndrome 2
Atrichia, Sparse hair, Nail dystrophy OMIM:619016
Agel Amyloidosis
Sparse hair, Abnormal spleen morphology, Nail dystrophy ORPHA:85448
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyebrow, Cryptorchidism, Sparse eyelashes, Nail dysplasia, Sparse hair OMIM:613026
Scarf Syndrome
Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Hepatocellular adenoma, Sparse hair ORPHA:3134
Garg-Mishra Progeroid Syndrome
Sparse hair, Small nail, Microvesicular hepatic steatosis OMIM:620601
Lamellar Ichthyosis
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Fine hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair OMIM:614091
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Meningioma
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Neoplasm of t... ORPHA:2495
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Juvenile myelomonocytic leukemia, Fine hair, Hepatosplenomegaly, Cryptorch... OMIM:613563
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
Auriculocondylar Syndrome 2B
Sparse hair, Synophrys OMIM:620458
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Cardiofaciocutaneous Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Cryptorchidism, Low pos... ORPHA:1340
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair ORPHA:2234
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Aplas... OMIM:305100
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Cryptorchidism, Nail dystr... OMIM:268400
Macs Syndrome
Alopecia, Sparse hair, Sparse eyebrow, Cryptorchidism OMIM:613075
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Aplasia of the sweat glands, Sparse hair, Sparse scalp hair OMIM:612132
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Alopecia, Sparse pubic hair, Sparse eyebrow, Non-obstructive azoospermia, ... ORPHA:2232
Ruijs-Aalfs Syndrome
Hepatocellular carcinoma, Sparse hair, Premature graying of hair OMIM:616200
ERI1-related disease
Sparse hair, Anonychia, Low anterior hairline OMIM:608739
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:224900
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Cryptorchidism, Nail dysplasia, An... ORPHA:221008
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Alopecia, Sparse hair ORPHA:659
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni... ORPHA:870
Papillon-Lefèvre Syndrome
Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Nail dystrophy, Generalized hir... ORPHA:678
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body hair, Cryptorchidism, Sparse eyel... ORPHA:2108
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Cryptorchidism, Nail dysplasia, An... ORPHA:221016
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Cryptorchidis... OMIM:617506
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Cryptorchidism, Sparse eyelashes,... OMIM:608156
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Oculodentodigital Dysplasia
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... ORPHA:2710
Mandibuloacral Dysplasia
Alopecia, Sparse hair, Hypoplastic fingernail ORPHA:2457
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Sparse hair, Cryptorchidism, Fine hair ORPHA:251028
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d... ORPHA:1010
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism OMIM:212066
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Weaver Syndrome
Fine hair, Cryptorchidism, Thin nail, Deep-set nails, Sparse hair, Hydrocele testis OMIM:277590
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:302960
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Supernumerary nipple, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Cryptorchidism, Fine hair OMIM:614438
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair OMIM:250410
Cranioectodermal Dysplasia 2
Sparse eyebrow, Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Splenomegaly, Spars... OMIM:613610
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... ORPHA:1071
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Splenomegaly, Brittle hair, Hepatomegaly, Sparse hair OMIM:252500
White-Sutton Syndrome
Sparse hair OMIM:616364
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Cryptorchidism, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:234100
Marshall Syndrome
Sparse eyebrow, Sparse hair, Sparse eyelashes ORPHA:560
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Cryptorchidism, Low anterior hai... OMIM:601358
Glass Syndrome
Nail dysplasia, Long eyelashes, Sparse hair OMIM:612313
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow OMIM:618644
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Breast hypoplasia, Nail dysplasia, Oligozoospermia, Sparse hair OMIM:614813
Cranioectodermal Dysplasia 3
Short nail, Fine hair, Cirrhosis, Broad nail, Sparse hair OMIM:614099
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail, Neutropenia OMIM:617799
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Hirsutism, Toenail dysplasia, Synophrys OMIM:300966
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Marshall-Smith Syndrome
Highly arched eyebrow, Bilateral cryptorchidism, Hypertrichosis, Thick eyebrow, Cryptorchidism, B... OMIM:602535
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse hair, Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Aplasia of the thymus, Hy... OMIM:620186
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Splenomegaly, Cryptorchidism, Hepatomegaly, Sparse hair OMIM:133540
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Long eyelashes, Cryptorchidism, Curly hair, Sparse hair, Sparse scalp hair OMIM:607721
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Azoospermia, Breast hypoplasia, Decreased testicul... ORPHA:432
Cockayne Syndrome A
Dry hair, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Hepatomegaly, Sparse hair OMIM:216400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Hepat... OMIM:280000
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair OMIM:305450
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Abnormal intrahepatic bile duc... ORPHA:363618
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Sparse hair OMIM:614114
Kid Syndrome
Trichilemmoma, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Scarring alopecia of scalp, Spar... ORPHA:477
Orofaciodigital Syndrome I
Hepatic fibrosis, Alopecia, Dry hair, Pancreatic cysts, Hepatic cysts, Ovarian cyst, Sparse hair OMIM:311200
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Oculodentodigital Dysplasia
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Cryptorchidism, Fine hair ORPHA:444072
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Teebi-Shaltout Syndrome
Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline OMIM:272950
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys OMIM:609460
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Sparse hair OMIM:615508
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Exocrine pancreatic insufficiency, Pancreatic cysts, Brittle hair, Sparse ... ORPHA:2750
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Short nail, Fine hair, Hepatic cysts,... OMIM:218330
De Barsy Syndrome
Sparse hair, Cryptorchidism ORPHA:2962
Leprosy
Alopecia, Testicular mass, Sparse body hair, Abnormality of the spleen, Abnormality of the liver,... ORPHA:548
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
Premature Aging Syndrome, Penttinen Type
Sparse hair OMIM:601812
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hair ORPHA:920
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Nail dystrophy, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic ste... OMIM:619127
Roberts Syndrome
Sparse hair, Cryptorchidism, Thrombocytopenia ORPHA:3103
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ... OMIM:150400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Long eyelashes, Cryptorchidism, Lo... OMIM:619841
Menkes Disease
Prolonged neonatal jaundice, Woolly hair, Hypopigmentation of hair, Sparse hair 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
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse body hair, Decreased te... ORPHA:90796
Myhre Syndrome
Sparse hair, Cryptorchidism, Fine hair, Thick eyebrow OMIM:139210
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow... ORPHA:2273
Costello Syndrome
Curly hair, Concave nail, Thin nail, Deep-set nails, Lymphangiectasis, Sparse hair, Fragile nails OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis OMIM:619934
Focal Dermal Hypoplasia
Supernumerary nipple, Ridged nail, Absent toenail, Cryptorchidism, Nail dystrophy, Nail dysplasia... OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Fine hair, Cryptorchidism, Sparse eyelashes, Prolonged neonatal jaundice, Sparse ... OMIM:210710
Woodhouse-Sakati Syndrome
Decreased testicular size, Alopecia, Sparse hair, Fine hair OMIM:241080
Scalp-Ear-Nipple Syndrome
Breast aplasia, Abnormal fingernail morphology, Sparse hair ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Thin eyebrow, Cryptorchidism, Loss of eyelashes, Sparse hair ORPHA:2636
Renpenning Syndrome 1
Decreased testicular size, Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal hirsutism, Sparse hair, Pseudohypoparathyroidism OMIM:617157
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Increased circulating prolactin concentration, Decreased respons... ORPHA:3455
Ablepharon-Macrostomia Syndrome
Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair OMIM:200110
Restrictive Dermopathy
Sparse eyebrow, Short nail, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat ... ORPHA:1662
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Sparse hair, Nail dystrophy ORPHA:158668
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Thick eyebrow, Alopecia of scalp, Sparse hair, Sparse scalp hair, Fragi... OMIM:150230
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Sparse hair, Sparse scalp hair OMIM:606721
Branchiooculofacial Syndrome
Premature graying of hair, Supernumerary nipple, Hypoplastic fingernail, Ectopic thymus tissue, W... OMIM:113620
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Sparse hair, Cryptorchidism OMIM:616682
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Sparse hair OMIM:619869
Menke-Hennekam Syndrome 1
Long eyelashes, Sparse hair, Cryptorchidism, Thick eyebrow OMIM:618332
Wrinkly Skin Syndrome
Short nail, Sparse hair, Cryptorchidism, Fragile nails OMIM:278250
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Sparse hair, Cryptorchidism, Biliary tract abnormality OMIM:268300
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism ORPHA:2834
Primrose Syndrome
Bilateral cryptorchidism, Sparse body hair, Cryptorchidism, Dystrophic fingernails, Absent axilla... OMIM:259050
Pallister-Killian Syndrome
Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Cryptorchidism, Spars... 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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