Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Cirrhosis, Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormal testis m... ORPHA:1775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Sparse hair, Thrombocytopenia, Nail dysplasia, Anemia, Bone marrow hypocellularity 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 eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, Neutropen... ORPHA:859
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Ataxia-Telangiectasia
Hypopigmentation of hair, Abnormality of chromosome stability, Premature graying of hair, Abnorma... ORPHA:100
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Immunodeficiency 54
Chromosome breakage, Adrenocorticotropic hormone excess, Reduced natural killer cell count, Hepat... OMIM:609981
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Fanconi Anemia, Complementation Group S
Low anterior hairline, Sparse hair, Ovarian neoplasm, Long eyelashes, Anemia, Chromosome breakage OMIM:617883
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking... OMIM:605724
Bloom Syndrome
Cryptorchidism, Azoospermia, Abnormality of chromosome stability, Hypertrichosis, Decreased circu... OMIM:210900
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Alopecia, Long eyebrows, Decreased response to growt... OMIM:275400
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Lig4 Syndrome
Cryptorchidism, Low anterior hairline, Abnormality of chromosome stability, Leukocytosis, Pancyto... ORPHA:99812
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Scarring alopecia of scalp, Anemia, Sparse body hair, Nail dystrophy ORPHA:79402
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Jaundice, Hepatomegaly, Sparse and th... ORPHA:59303
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage, Bone marrow hypocellularity, Anemia OMIM:614083
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:609054
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Sparse axillary hair, Nail dysplasia, Sparse scalp ha... OMIM:257960
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism ORPHA:85274
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:600901
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227645
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227650
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Premature ovarian insufficiency, Nail d... OMIM:618625
Filippi Syndrome
Sparse hair, Cryptorchidism, Hypertrichosis, Frontal hirsutism OMIM:272440
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Splenomegaly, Patchy alope... ORPHA:2930
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:616901
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Sparse lateral eyebrow, Distichiasis ORPHA:79133
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Alopecia ORPHA:2251
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Decreased circulating IgA level, Leukemia, Abnormality of th... OMIM:208910
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Schopf-Schulz-Passarge Syndrome
Small nail, Sparse hair, Poroma, Onycholysis, Ridged nail, Apocrine hidrocystoma, Thin nail, Narr... OMIM:224750
Crandall Syndrome
Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse bod... ORPHA:202
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u... ORPHA:33364
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:129490
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Aredyld
Generalized hypotrichosis OMIM:207780
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Long eyelashes, Sparse scalp hair, Thick eyebrow, Hypertrichosis OMIM:614608
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227646
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Uncombable hair, Hepatomegaly, Hepatitis, Brittle hair, Pili canaliculi, ... OMIM:614602
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Periungual erythema, Sparse hair, Increased circulating IgA level, Lymphopenia, P... OMIM:615934
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Cirrhosis, Sparse hair, Premature graying of hair, Lymphopenia, Ridged nail, Thrombocy... OMIM:127550
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Alopecia ORPHA:2985
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Hyperconvex nail, Sparse axillary hair, Abnormality o... ORPHA:189
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Neutropenia, De... OMIM:609053
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Nail dysplasia, Sparse scalp hair, Sparse body... ORPHA:1809
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Anterior hypopituitarism, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Alopecia Antibody Deficiency
Sparse hair, Decreased circulating antibody level, Abnormal eyelash morphology, Aplasia/Hypoplasi... ORPHA:1006
Nicolaides-Baraitser Syndrome
Cryptorchidism, Highly arched eyebrow, Sparse hair, Abnormal testis morphology, Long eyelashes, A... ORPHA:3051
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Anemia, Le... OMIM:603467
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Abnormality of chromosome stability, Aplastic anemia OMIM:300514
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Sparse body ha... OMIM:613102
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
Noonan Syndrome 6
Cryptorchidism, Juvenile myelomonocytic leukemia, Sparse hair, Curly hair, Long eyebrows, Low pos... OMIM:613224
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Gand Syndrome
Sparse hair OMIM:615074
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Sparse hair, Decreased circulating antibody level, Neutropen... ORPHA:175
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Nijmegen Breakage Syndrome
Low anterior hairline, Hemolytic anemia, Abnormality of chromosome stability, Abnormal hair morph... ORPHA:647
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow, Sparse lower eyelashes, Distichiasis,... ORPHA:1807
Dermoodontodysplasia
Trichodysplasia, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse body hair ORPHA:1660
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Low posterior hairline, Azoospermia, Absent facial hair ORPHA:2183
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Abnormality of the nail, Sparse hair, Absent eyelashes, Absent eyebrow, Toenail... OMIM:607823
Bazex Syndrome
Sparse hair, Coarse hair, Trichorrhexis nodosa, Pili torti, Trichoepithelioma OMIM:301845
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Decreased circulating antibody level, Tiger tail banding, Slow-growing hair, Brittle... OMIM:300953
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Hirsutism, Long eyelashes, Thick eyebrow OMIM:616819
2Q32Q33 Microdeletion Syndrome
Fine hair, Decreased testicular size, Sparse hair ORPHA:251019
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Long eyelashes in irregular rows,... ORPHA:2963
Mental Retardation, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Olmsted Syndrome 1
Sparse hair, Nail dysplasia, Subungual hyperkeratosis, Alopecia universalis, Nail dystrophy OMIM:614594
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sparse hair OMIM:273390
Bone Marrow Failure Syndrome 3
Cryptorchidism, Small nail, Sparse hair, Exocrine pancreatic insufficiency, Pancytopenia, Acute m... OMIM:617052
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair texture, Progressive h... OMIM:225060
Adams-Oliver Syndrome
Cirrhosis, Sparse hair, Absent fingernail, Thrombocytopenia, Congenital hepatic fibrosis, Hypopla... ORPHA:974
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Absent eyelashes, Absent eyebrow, Sparse scalp hair, Alopecia, Sparse body hair... ORPHA:69735
Rosselli-Gulienetti Syndrome
Nail dysplasia, Sparse and thin eyebrow, Progressive hypotrichosis, Sparse eyelashes OMIM:225000
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Sparse hair, Abnormal hair whorl ORPHA:2872
Revesz Syndrome
Nail pits, Sparse hair, Ridged fingernail, Aplastic anemia, Bone marrow hypocellularity, Fine hai... OMIM:268130
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Fine hai... OMIM:211370
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Cranioectodermal Dysplasia
Abnormal toenail morphology, Sparse hair, Abnormal fingernail morphology ORPHA:1515
Aredyld Syndrome
Sparse body hair, Hepatomegaly, Aplasia/Hypoplasia of the eyebrow, Splenomegaly ORPHA:1133
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Leukocytosis, Ridged nail, Breast aplasia, Coarse hair... OMIM:308300
Mcdonough Syndrome
Cryptorchidism, Hypoplastic toenails, Sparse hair, Synophrys OMIM:248950
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Sparse hair, Distichiasis OMIM:119580
Odontoonychodermal Dysplasia
Dry hair, Sparse hair, Anonychia, Nail dysplasia, Sparse scalp hair, Sparse and thin eyebrow, Dys... OMIM:257980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Cryptorchidism, Sparse hair OMIM:616817
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Pulmona... OMIM:137940
Mirage Syndrome
Cryptorchidism, Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Decreased testicular size, Hyp... OMIM:617053
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Macroorchidism, Sparse hair, Polycystic ovaries ORPHA:284180
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Brittle hair, ... OMIM:601675
Dyskeratosis Congenita
Cirrhosis, Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormal testis m... ORPHA:1775
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Sparse hair, Sparse lateral eyebrow, Thin eyebrow, Pili torti, Sparse eyel... ORPHA:1787
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Progeroid Facial Appearance With Hand Anomalies
Sparse hair OMIM:602249
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse hair, Thick hair, Hepatomegaly, Jaundice, Cholangitis, Alopecia, Sparse eyelashes OMIM:607626
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Menkes Disease
Sparse hair OMIM:309400
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Sparse hair, Aplasia of the eccr... OMIM:300291
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia, Decreased testicular size OMIM:147770
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Sparse hair, Curly hair, Increased mean platelet volume, Cholestasis, ... OMIM:222470
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Cryptorchidism, Decreased testicular size, Increased circulating gonadotropin l... OMIM:300869
Fanconi Anemia
Cryptorchidism, Absent testis, Azoospermia, Abnormality of chromosome stability, Abnormal testis ... ORPHA:84
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Synophrys, Nail dystrophy,... ORPHA:3253
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Lelis Syndrome
Yellow nails, Sparse hair, Sparse lateral eyebrow, Absent lower eyelashes, Abnormal toenail morph... ORPHA:140936
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, ... ORPHA:217346
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic neutropenia, Neutropenia, Sparse pubic hair, ... OMIM:258360
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Sparse hair, Synophrys OMIM:619320
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Sparse eyelashes OMIM:618535
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating IgA level, Chromosomal breakage induced by ion... ORPHA:420741
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia ORPHA:2316
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Tetrasomy 12P
Sparse and thin eyebrow, Sparse hair ORPHA:884
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse hair, Alopecia, Sparse eyelashes OMIM:613451
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Pili canaliculi, Progressive alopecia,... OMIM:129400
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Leukonychia, Slow-growing hair, Concave nail, Thin nail, Sparse lateral eyebrow, Thi... OMIM:190350
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Sparse hair OMIM:601812
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Low anterior hairline, Highly arched eyebrow, Sparse hair, Hypoplastic nipples, S... OMIM:608156
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Hypoplastic nipples, Sparse scalp hair, Sparse lateral eyebrow, Spars... OMIM:614941
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Sparse hair, Autoimmune hemolytic anemia, Absent eyebrow, Hypoplasia of the t... ORPHA:436252
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Decreased testicular size, Thick eyebrow, Sparse hair ORPHA:127
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Lysinuric Protein Intolerance
Hemophagocytosis, Sparse hair, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, ... OMIM:222700
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Rothmund-Thomson Syndrome
Abnormality of the nail, Sparse eyebrow, Small nail, Sparse hair, Neutropenia, Nail dysplasia, Al... ORPHA:2909
Macs Syndrome
Cryptorchidism, Sparse and thin eyebrow, Sparse hair, Alopecia OMIM:613075
Trichorhinophalangeal Syndrome Type 1 And 3
Sparse hair, Leukonychia, Sparse and thin eyebrow, Fragile nails, Sparse eyelashes ORPHA:77258
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytosis, Hepatic steatosis, Macron... ORPHA:699
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyelashes, Curly hair, Absent eyebrow, Slow-growing hair, Splenomegaly, Low p... OMIM:115150
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Sparse eyebrow, Sparse hair, Nail dysplasia, Sparse eyelashes OMIM:613026
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Down Syndrome
Abnormality of the lymphatic system, Acute megakaryocytic leukemia, Sparse hair ORPHA:870
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Lymphopenia, Sparse hair, Anemia OMIM:616541
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Sparse hair, Synophrys, Hepatosplenomegaly ORPHA:96123
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Nail dysplasia, Hepatic fibrosis, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Sparse hair OMIM:604536
Gapo Syndrome
Sparse eyebrow, Sparse hair, Breast hypoplasia, Hypoplastic nipples, Nail dysplasia, Hepatomegaly... OMIM:230740
Agel Amyloidosis
Abnormal spleen morphology, Sparse hair, Nail dystrophy ORPHA:85448
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Polycystic ovaries OMIM:268020
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Sparse hair, Thrombocytopenia, Nail dysplasia, Anemia, Bone marrow hypocellularity OMIM:612199
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Scarf Syndrome
Cryptorchidism, Sparse hair, Hepatocellular adenoma, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Sparse hair, Neutropenia, Nail dysplasia, Alopecia totalis, Sparse or absent eyel... ORPHA:221008
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Sparse eyebrow, Sparse hair, Premature graying of hair, Absent eyelashes, Absent ... OMIM:268400
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair OMIM:190351
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Ifap Syndrome 2
Atrichia, Sparse hair, Nail dystrophy OMIM:619016
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Decreased testicular size ORPHA:2234
Lamellar Ichthyosis
Abnormality of the nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Anonychia, Hyperconvex nail, Patchy alopecia, Sparse body hair, Supernumerary n... OMIM:106260
Cardiofaciocutaneous Syndrome
Cryptorchidism, Sparse hair, Abnormal eyelash morphology, Slow-growing hair, Sparse or absent eye... ORPHA:1340
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair OMIM:614940
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:224900
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Sparse hair OMIM:602613
Hallermann-Streiff Syndrome
Cryptorchidism, Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:234100
Papillon-Lefèvre Syndrome
Generalized hirsutism, Abnormality of the nail, Hypertrichosis, Sparse body hair, Liver abscess, ... ORPHA:678
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Abnormal eyebrow morphology, Aplasia of... ORPHA:2232
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Neoplasm of the posterior pituitary, Increase... ORPHA:2495
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Sparse hair OMIM:614438
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Sparse hair, Neutropenia, Nail dysplasia, Alopecia totalis, Sparse or absent eyel... ORPHA:221016
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse and thin eyebrow, Sparse hair, Alopecia, Sparse eyelashes OMIM:302960
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Kid Syndrome
Cryptorchidism, Hypoplastic toenails, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Abnormal ey... ORPHA:477
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Sparse hair, Hypoplastic nipples, Low posterior hairline OMIM:312830
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Sparse hair OMIM:219150
Hallermann-Streiff Syndrome
Cryptorchidism, Sparse hair, Abdominal situs inversus, Sparse and thin eyebrow, Alopecia, Abnorma... ORPHA:2108
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Thick eyebrow, Hirsutism, Sparse hair OMIM:212066
Mandibuloacral Dysplasia
Sparse hair, Hypoplastic fingernail, Alopecia ORPHA:2457
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Sparse hair, Oligospermia, Breast hypoplasia, Nail dysplasia OMIM:614813
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Cryptorchidism, Decreased testicular size, Sparse hair ORPHA:251028
Cranioectodermal Dysplasia 2
Sparse eyebrow, Sparse hair, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangit... OMIM:613610
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Absent eyebrow, Hypoplastic nipples, Concave nail, ... OMIM:305100
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Sparse hair, Abnormal fingernail morphology ORPHA:1806
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Curly hair, Slow-growing hair, Brittle hair, Fine hair, Abn... ORPHA:2710
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair, Sparse body hair OMIM:608615
Weaver Syndrome
Cryptorchidism, Hydrocele testis, Sparse hair, Deep-set nails, Thin nail, Fine hair OMIM:277590
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Small nail, Sparse eyebrow, Sparse hair, High anterior hairline, Sparse eyelashes OMIM:250410
Glass Syndrome
Nail dysplasia, Sparse hair OMIM:612313
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Acute lymphoblastic leukemia, Sparse hair, Fine hair OMIM:280000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse hair, Hyperconvex nail, Coarse hair, Hyperconvex fingernails, Sparse and thin eyebrow, Dys... ORPHA:1071
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Highly arched eyebrow, Sparse hair, Curly hair, High anterior hairline, Slow-grow... OMIM:617506
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, Female hypogonadism,... ORPHA:432
Cockayne Syndrome A
Cryptorchidism, Sparse hair, Dry hair, Thymic hormone decreased, Hepatomegaly, Splenomegaly OMIM:216400
Cranioectodermal Dysplasia 3
Cirrhosis, Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
Marshall Syndrome
Sparse and thin eyebrow, Sparse hair, Sparse eyelashes ORPHA:560
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Absent eyelashes, Premature graying of hair, Absent eyebrow, Alopecia universalis, A... ORPHA:363618
Orofaciodigital Syndrome I
Ovarian cyst, Sparse hair, Pancreatic cysts, Hepatic cysts, Hepatic fibrosis, Alopecia OMIM:311200
Cockayne Syndrome B
Cryptorchidism, Sparse hair, Dry hair, Abnormal hair morphology, Hepatomegaly, Splenomegaly OMIM:133540
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys OMIM:609460
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Sparse hair, Cryptorchidism, Juvenile myelomonocytic leukemia, Fine hair OMIM:613563
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Nail pits, Sparse hair, Sparse eyelashes, Sparse axillary hair, Fair hair, Hypopl... OMIM:129900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, Sparse hair, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair OMIM:607721
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair OMIM:618644
Scalp-Ear-Nipple Syndrome
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Breast aplasia, Nail dysplasia, F... OMIM:181270
Oculodentodigital Dysplasia
Sparse hair, Dry hair, Slow-growing hair, Fine hair, Fragile nails OMIM:164200
Opitz-Kaveggia Syndrome
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:305450
Naxos Disease
Onycholysis, Curly hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Nail dystrophy OMIM:601214
Cranioectodermal Dysplasia 1
Sparse hair, Hepatic cysts, Malformation of the hepatic ductal plate, Slow-growing hair, Hepatic ... OMIM:218330
Leprosy
Absent eyebrow, Loss of eyelashes, Alopecia, Sparse body hair, Abnormality of the spleen, Abnorma... ORPHA:548
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hirsutism, Toenail dysplasia, Sparse hair, Synophrys OMIM:300966
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Decreased response to growth hormone stimuation test OMIM:614114
Teebi-Shaltout Syndrome
Low anterior hairline, Highly arched eyebrow, Sparse hair, Slow-growing hair OMIM:272950
Orofaciodigital Syndrome Type 1
Sparse hair, Exocrine pancreatic insufficiency, Pancreatic cysts, Coarse hair, Abnormality of the... ORPHA:2750
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Cerebellar-Facial-Dental Syndrome
Fine hair, Cryptorchidism, Sparse eyebrow, Sparse hair ORPHA:444072
Chime Syndrome
Sparse hair, Acute leukemia, Fine hair ORPHA:3474
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Brittle hair, Sparse hair OMIM:618891
Kaufman Oculocerebrofacial Syndrome
Sparse and thin eyebrow, Sparse hair OMIM:244450
Tooth Agenesis, Selective, 4
Short eyelashes, Sparse eyebrow, Sparse hair OMIM:150400
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Sparse hair, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Hepatomeg... OMIM:619127
Sc phocomelia syndrome
Sparse hair, Fair hair OMIM:269000
De Barsy Syndrome
Cryptorchidism, Sparse hair ORPHA:2962
Menkes Disease
Prolonged neonatal jaundice, Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Ablepharon Macrostomia Syndrome
Sparse hair, Absent eyelashes, Breast hypoplasia, Absent eyebrow, Abnormal hair pattern, Fine hair ORPHA:920
Woodhouse-Sakati Syndrome
Sparse hair, Elevated circulating thyroid-stimulating hormone concentration, Alopecia, Fine hair,... OMIM:241080
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair OMIM:615508
Roberts Syndrome
Thrombocytopenia, Cryptorchidism, Sparse hair ORPHA:3103
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Brittle hair, Coarse hair OMIM:607812
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Sparse hair OMIM:612132
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Sparse axillary hair, Polycystic ... ORPHA:90796
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Sparse hair OMIM:151050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Abnormality of the nail, Sparse hair, Thin fingernail, Abnormal hair morphology, ... ORPHA:2273
Focal Dermal Hypoplasia
Cryptorchidism, Absent toenail, Sparse hair, Absent fingernail, Hypoplastic nipples, Nail dysplas... OMIM:305600
Myhre Syndrome
Fine hair, Cryptorchidism, Thick eyebrow, Sparse hair OMIM:139210
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Small nail, Sparse hair, Broad eyebrow, Sparse scalp hair, Sparse and thin eyebro... OMIM:264090
Atypical Werner Syndrome
Ovarian neoplasm, Abnormal hair morphology, Abnormal testis morphology, Abnormal hair quantity, P... ORPHA:79474
Costello Syndrome
Sparse hair, Deep-set nails, Curly hair, Concave nail, Thin nail, Lymphangiectasis, Fragile nails OMIM:218040
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Cryptorchidism, Sparse hair OMIM:616682
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Sparse hair, Loss of eyelashes, Alopecia, Thin eyebrow ORPHA:2636
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036
Renpenning Syndrome 1
Decreased testicular size, Sparse lateral eyebrow, Brittle hair, Sparse hair OMIM:309500
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Sparse hair, Hepatic steatosis, Hirsutism, Synophrys, Sparse scalp hair, Increase... ORPHA:3455
Restrictive Dermopathy
Sparse eyebrow, Sparse hair, Sparse or absent eyelashes, Short nail, Aplasia/Hypoplastia of the e... ORPHA:1662
Branchiooculofacial Syndrome
Cryptorchidism, Low posterior hairline, Sparse hair, Premature graying of hair, Ectopic thymus ti... OMIM:113620
Menke-Hennekam Syndrome 1
Long eyelashes, Cryptorchidism, Thick eyebrow, Sparse hair OMIM:618332
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Accessory spleen, Sparse hair, Biliary tract abnormality OMIM:268300
Wrinkly Skin Syndrome
Cryptorchidism, Sparse hair, Short nail, Fragile nails OMIM:278250
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Sparse hair, Nail dystrophy ORPHA:158668
Wrinkly Skin Syndrome
Cryptorchidism, Sparse hair ORPHA:2834

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
Ctc1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Ctc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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