Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
GATA binding protein 3
Synonyms:
Gata-3,  jal

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Gata3 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 Gata3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Pseudopapilledema OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment ORPHA:2237

The table below shows human diseases predicted to be associated to Gata3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo OMIM:600060
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Deafness, Autosomal Recessive 48
Vestibular dysfunction, Profound sensorineural hearing impairment OMIM:609439
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Immunodeficiency 40
Lymphopenia OMIM:616433
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... ORPHA:2891
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... OMIM:617294
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Candidiasis, Familial, 1
Alopecia OMIM:114580
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
L-Ferritin Deficiency
Alopecia OMIM:615604
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type If
Congenital sensorineural hearing impairment OMIM:602083
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Immunodeficiency 8
Lymphopenia OMIM:615401
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Hypohidrosis, Sparse and thin eyebrow, Sparse hair OMIM:602400
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Naxos Disease
Abnormality of hair texture, Curly hair, Hyperhidrosis, Woolly hair, Sparse scalp hair ORPHA:34217
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment OMIM:618295
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Kerion Celsi
Alopecia ORPHA:499
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Abnorma... ORPHA:248
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... ORPHA:1008
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Waardenburg Syndrome, Type 2E
Morphological abnormality of the vestibule of the inner ear, Dilated vestibule of the inner ear, ... OMIM:611584
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Carvajal Syndrome
Woolly hair ORPHA:65282
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Porphyria Cutanea Tarda
Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Onycholysis OMIM:176100
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc... ORPHA:1882
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, Death in childhood, T lymphocytopenia OMIM:619164
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Reticula... ORPHA:79397
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Slow-growing hair, Sparse and thin eye... OMIM:129490
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Dwarfism, Familial, With Muscle Spasms
Fine hair, Sparse scalp hair, Brittle scalp hair OMIM:600771
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Abnormality of retinal pigmentation, Abnormal toenail morphology, Ungual fibroma, Spar... ORPHA:1433
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... ORPHA:2228
Leopard Syndrome 2
Curly hair, Multiple lentigines, Cafe-au-lait spot OMIM:611554
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Sparse hair, Long eyebrows OMIM:275400
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentation of the skin, Nail dysplasia, Leukonychi... OMIM:104100
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail OMIM:619209
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Cardiofaciocutaneous Syndrome 3
Curly hair, Hyperhidrosis OMIM:615279
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Freckling, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair ORPHA:1573
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... OMIM:258360
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Abnormality of hair texture OMIM:270300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Noonan Syndrome 6
Curly hair, Multiple lentigines, Low posterior hairline, Sparse hair, Long eyebrows, Cafe-au-lait... OMIM:613224
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Brittle hair, Coarse hair OMIM:616390
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem, Cerebellar atroph... OMIM:616192
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Pilodental Dysplasia With Refractive Errors
Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnormality of the nail, Sparse sc... OMIM:262020
Immunodeficiency 52
Death in infancy, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, ... OMIM:617514
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Bazex Syndrome
Hyperpigmentation of the skin, Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Spars... OMIM:301845
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Leopard Syndrome 3
Low posterior hairline, Curly hair, Multiple lentigines, Few cafe-au-lait spots OMIM:613707
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hyperpigmentation of the skin, Alopecia, Melanocytic nevus OMIM:612079
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... ORPHA:163654
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
Noonan Syndrome 5
Fine hair, Small nail, Sparse eyebrow, Curly hair, Multiple lentigines, Cafe-au-lait spot OMIM:611553
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Hypohidrosis OMIM:615704
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Cerebellar atrophy OMIM:117210
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Pachyonychia Congenita 2
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... OMIM:167210
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys ORPHA:1021
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Hyperhidrosis, Alopecia universalis, Sp... OMIM:614594
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... OMIM:117850
Trichohepatoenteric Syndrome 2
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi OMIM:614602
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Aplasia of the semicircular canal, Low-set, ... ORPHA:648
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Irregular hyperpigmentation, Generalized hirsutism, Abnormali... ORPHA:317
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair OMIM:616395
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Noonan Syndrome 8
Curly hair, Hyperpigmentation of the skin OMIM:615355
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia, Hyperpigmentation of the skin ORPHA:50812
Smith-Kingsmore Syndrome
Curly hair, Cafe-au-lait spot OMIM:616638
Hypotrichosis Simplex Of The Scalp
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair ORPHA:90368
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Noonan Syndrome 7
Low posterior hairline, Curly hair, Hyperhidrosis OMIM:613706
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Naxos Disease
Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Sparse body hair OMIM:601214
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Idiopathic Trachyonychia
Ridged nail, Circumungual hyperkeratosis, Thin nail, Nail dystrophy, Fingernail dysplasia, Vitili... ORPHA:79153
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis OMIM:617524
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair ORPHA:1883
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular Schwannoma OMIM:603641
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... OMIM:234050
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Curly hair, Cafe-au-lait spot ORPHA:457485
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Thin nail, Alopecia, Hypohidrosis OMIM:242100
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail, Hypohidrosis ORPHA:79394
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:617519
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Na... OMIM:257980
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair OMIM:242300
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... OMIM:612843
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Classic Mycosis Fungoides
Hypopigmented skin patches, Alopecia, Irregular hyperpigmentation, Abnormality of the nail ORPHA:2584
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Hyperpigmentation of the skin, Nail dystrophy, Alopecia, Atrichia, Conge... ORPHA:1867
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Axonal degeneration... OMIM:601596
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Brittle hair, Tiger tail banding OMIM:616943
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, Hyperhidrosis, Long eyelashes, High anterior hairline ORPHA:231137
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow, Blue irides OMIM:610733
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Dermatopathia Pigmentosa Reticularis
Nail dystrophy, Alopecia of scalp, Reticular hyperpigmentation, Hypohidrosis OMIM:125595
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Adult onset sensorineural hearing impairment, Decreased nerve c... ORPHA:1368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Generalized hyperpigmentation, Abnor... ORPHA:2930
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Acrogeria
Fine hair, Irregular hyperpigmentation ORPHA:2500
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing impairment, Ante... OMIM:610706
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Lichen Planopilaris
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Multicys... ORPHA:107
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia,... ORPHA:990
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Lymphangiectasia, Intestinal
Stillbirth, Lymphopenia OMIM:152800
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Onycholysis, Hypohidrosis, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:1028
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Sparse hair, Hypohidrosis ORPHA:100976
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia, Hypohidrosis, Sparse and thin eyebrow, Sparse hair OMIM:613451
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Trichohepatoneurodevelopmental Syndrome
Hypoplastic nipples, Hypertrichosis, Coarse hair, Curly hair, Woolly hair, Synophrys OMIM:618268
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... ORPHA:2963
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia ORPHA:277
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Underdeveloped tragus,... ORPHA:50815
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Alopecia, Coarse hair ORPHA:75389
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches, Alopecia ORPHA:3143
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment OMIM:617654
Weaver Syndrome
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:3447
Apert Syndrome
Conductive hearing impairment, Morphological abnormality of the semicircular canal, Optic atrophy... ORPHA:87
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Inc... OMIM:616924
Hernia, Hiatus
Hiatus hernia OMIM:142400
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... OMIM:211370
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Adult Syndrome
Fine hair, Hypoplastic nipples, Freckling, Fingernail dysplasia, Alopecia, Sparse scalp hair, Mel... ORPHA:978
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Trichothiodystrophy 5, Nonphotosensitive
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding OMIM:300953
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment ORPHA:95433
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak ORPHA:1520
Crouzon Disease
Optic atrophy, Conductive hearing impairment, Hearing impairment, Hydrocephalus, Narrow internal ... ORPHA:207
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hirsutism, Synophrys OMIM:252900
Chand Syndrome
Curly hair, Nail dysplasia, Hypohidrosis ORPHA:1401
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair ORPHA:69735
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Trichohepatoenteric Syndrome 1
Fine hair, Brittle hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Sparse hair OMIM:222470
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse hair ORPHA:3051
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Multiple cafe-au-lait spots, Sparse hair ORPHA:2316
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Cardiofaciocutaneous Syndrome 1
Hyperpigmentation of the skin, Absent eyebrow, Absent eyelashes, Curly hair, Multiple lentigines,... OMIM:115150
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Multiple cafe-au-lait spots, Sparse hair OMIM:147770
Jervell And Lange-Nielsen Syndrome 2
Congenital sensorineural hearing impairment, Sensorineural hearing impairment OMIM:612347
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Curly hair, Multiple lentigines... OMIM:607721
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Thick hair, Alopecia, Sparse hair OMIM:607626
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar hyperhidrosis ORPHA:659
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly OMIM:614262
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Middle Ear Neuroendocrine Tumor
Abnormality of the auditory canal, Facial palsy, Abnormality of the tympanic membrane, Sensorineu... ORPHA:100084
Trichotillomania
Alopecia OMIM:613229
Noonan Syndrome 10
Curly hair, Hyperpigmentation of the skin, Sparse eyebrow, Cafe-au-lait spot OMIM:616564
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Fragile nails OMIM:242150
Charge Syndrome
Arrhinencephaly, Holoprosencephaly, Facial palsy, Sensorineural hearing impairment, Mixed hearing... OMIM:214800
Noonan Syndrome 2
Hyperpigmentation of the skin, Sparse eyebrow, Curly hair, Low posterior hairline, Cafe-au-lait spot OMIM:605275
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Freckling, Brittle hair, Nail dystrophy, Trichorrhexis... OMIM:601675
Oculodentodigital Dysplasia
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... ORPHA:2710
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair ORPHA:3082
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Netherton Syndrome
Sparse and thin eyebrow, Brittle hair, Brittle scalp hair, Sparse scalp hair OMIM:256500
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hirsutism, Synophrys OMIM:252920
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Netherton Syndrome
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, I... ORPHA:634
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormality of skin pigmentation, Hypohidrosis, Abnormal fingernail morphology, Sparse... ORPHA:1806
Keratoderma Hereditarium Mutilans With Ichthyosis