Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
stearoyl-Coenzyme A desaturase 2
Synonyms:
Scd-2

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 Scd2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Scd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Blepha... OMIM:618535
Clouston Syndrome
Sparse eyebrow, Alopecia, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash... OMIM:129500
Flotch Syndrome
Abnormality of the nail, Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality o... ORPHA:2045
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Curly hair, Sparse ey... OMIM:602400
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyebrow, Folliculitis, Keratitis, Alopecia, Nail dystrophy, Sparse eyelashes, Nail dysplas... OMIM:612843
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis, Posterior blepharitis, Blepharitis OMIM:300918
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ifap Syndrome 2
Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoconjunctivit... OMIM:619016
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Dystrophic fingernails... OMIM:308800
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Trichodysplasia-Xeroderma Syndrome
Alopecia, Sparse eyebrow, Coarse hair, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Pili tort... ORPHA:202
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:1008
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Sparse eyebrow, Alopecia, Sparse pubic hair, Brittle scalp hair, Fine ... ORPHA:189
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail... OMIM:614931
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Lichen Planus Pemphigoides
Conjunctivitis, Abnormality of the nail, Blepharitis ORPHA:254478
Kondoh Syndrome
Atopic dermatitis, Thick eyebrow, Ptosis, Sparse hair, Widow's peak OMIM:606242
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin... OMIM:618625
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Edema ORPHA:498359
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Pyknoachondrogenesis
Stillbirth OMIM:265880
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Loss of eyelashes, Chemosis, Conjunctival hyperemia, Keratoco... ORPHA:163934
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Aredyld
Generalized hypotrichosis OMIM:207780
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, A... ORPHA:1809
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Nail dystrophy, Epicanthus, Sparse hair OMIM:619692
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Leukonychia Totalis
Abnormal fingernail morphology, Abnormal toenail morphology, Adenoma sebaceum, Abnormal eyelash m... ORPHA:2387
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis ORPHA:79503
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Sparse axillary hair, Hypogonadotro... OMIM:146110
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Epicanthus, Distichiasis, Sparse hair, Absent lower eyelashes OMIM:227260
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Acrodermatitis Enteropathica
Alopecia, Abnormality of the nail, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, P... ORPHA:37
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... ORPHA:1433
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pe... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Lacrimal duct atresia, Sparse body hair, Supernumerary nipple, Nail dystrophy, S... OMIM:106260
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair ORPHA:2574
Alpha-Methylacetoacetic Aciduria
Dehydration, Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts OMIM:203750
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Contact dermatitis, Acne, Miscarriage ORPHA:3406
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Cryptorchidism, Sparse body hair ORPHA:85274
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Nail dystrophy, Narrow ... OMIM:224750
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Skin rash, R... OMIM:604173
Vernal Keratoconjunctivitis
Allergic conjunctivitis, Conjunctival hyperemia, Keratoconjunctivitis, Punctate keratitis, Blepha... ORPHA:70476
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism, Oligomenorrhea, Infertility, Acne OMIM:604931
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Angular cheilitis, Sparse axilla... OMIM:613102
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Hypogonadism, Decreased response to growth hormone stimulation test, Long eyelashes, Cr... ORPHA:3363
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Acquired Ichthyosis
Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Pruritus, Hyperkeratosis ORPHA:454
Limb-Mammary Syndrome
Sparse eyebrow, Alopecia, Absent nipple, Lacrimal duct atresia, Breast aplasia, Psoriasiform derm... ORPHA:69085
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperkeratosis, Dehydration ORPHA:457
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Dehydration, Neonatal death OMIM:602199
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatit... ORPHA:477
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Alopecia Antibody Deficiency
Sparse body hair, Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Ptosis, Abnormal eyel... ORPHA:1660
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... ORPHA:129
Lamellar Ichthyosis
Ichthyosis, Erythroderma, Pruritus, Hyperkeratosis, Dehydration ORPHA:313
Cardiofaciocutaneous Syndrome 2
Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair OMIM:615278
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Lymphedema, Hyperlipidemia, ... OMIM:214900
Classic Mycosis Fungoides
Eczematoid dermatitis, Skin rash, Splenomegaly, Hepatomegaly, Pruritus, Hyperkeratosis, Edema ORPHA:2584
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatitis, Pustul... ORPHA:294023
Hypotrichosis 3
Abnormal eyelash morphology, Abnormality of the nail, Sparse scalp hair, Abnormal sweat gland mor... OMIM:613981
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop... ORPHA:2890
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Hypoplastic lacrimal duct, Absent lacrimal punctum, Upslanted palpebral fissure, Cryptorchidism, ... OMIM:273390
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis OMIM:616834
Chronic Hiccup
Dehydration ORPHA:396
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dehydration OMIM:618958
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar hyperkerato... OMIM:620507
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Dehydration ORPHA:289504
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Heyn-Sproul-Jackson Syndrome
Epicanthus, Sparse hair OMIM:618724
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... OMIM:604536
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Polyhydramnios, Dehydration OMIM:616069
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Pruritis on hand... ORPHA:90280
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism, Sparse body hair ORPHA:261483
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Isolated Follicle Stimulating Hormone Deficiency
Sparse pubic hair, Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, D... ORPHA:52901
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Euryblepharon, Distichiasis, Nail dysplasia, Ectropion of low... OMIM:119580
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy, Concave nail, Sparse eyela... OMIM:234050
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Pruritus, Hyperkeratosis, Edema ORPHA:166113
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Long eyelashes, Epicanthus, Chronic otitis media, Blepharitis ORPHA:261279
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Epicanthus, Distic... ORPHA:1807
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Gand Syndrome
Sparse hair, Blepharophimosis, Narrow palpebral fissure OMIM:615074
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Sparse pubic hair, Fair hair, Decreased response to growth hormone stimulation te... OMIM:604292
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver... OMIM:212140
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis, Sparse hair OMIM:619989
Netherton Syndrome
Eczematoid dermatitis, Skin rash, Ichthyosis, Acanthosis nigricans, Erythroderma, Congenital nonb... ORPHA:634
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse eyebrow, Sparse pubic hair, Fair hair, Decreased response to growth hormone s... OMIM:129900
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Erythroderma, Congenital bullous ichthyosiform erythroderma... ORPHA:312
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypergonadotrop... ORPHA:2850
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair, Hypergonadotropic hy... ORPHA:2183
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Dyskeratosis Congenita
Alopecia, Periodontitis, White hair, Premature graying of hair, Abnormal fingernail morphology, A... ORPHA:1775
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Decreased response to growth hormone stimulati... ORPHA:1896
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... OMIM:610600
Björnstad Syndrome
Hypogonadism, Alopecia, Brittle hair ORPHA:123
Reticular Dysgenesis
Skin rash, Dehydration ORPHA:33355
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Eczematoid dermatitis, Sparse body hair ORPHA:1810
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi... OMIM:602540
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Anterior hypopituitarism, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Familial Cold Urticaria
Pruritus, Dehydration ORPHA:47045
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Short palpebral fissure, Alopecia, Eczematoid dermatitis, Downslanted palp... ORPHA:3051
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Parakeratosis, Pruritis on hand, Pru... ORPHA:64745
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Hypogonadism, Hypoplastic nipples, Nasolacrimal duct obstruction, Sparse hair OMIM:273400
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Pustule, Dehydration, Glucocortocoid-insensitive primary hyper... ORPHA:171876
Lessel-Kubisch Syndrome
Hypogonadism, Sparse pubic hair, Premature graying of hair OMIM:618681
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Coarse hair, Acne inversa, Eczematoid dermatitis, Trichorrhexis nodosa, Pili t... OMIM:301845
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Xeroderma Pigmentosum
Alopecia, Ankyloblepharon, Keratitis, Pterygium, Hypogonadism, Decreased testicular size, Cryptor... ORPHA:910
Autosomal Agammaglobulinemia
Recurrent skin infections, Hepatitis, Skin rash, Dehydration ORPHA:33110
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Upper eyelid edema, Low anterior hairline, Hirsutism, Sparse hair OMIM:616819
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Generalized ichthyosis, Pruritus OMIM:608649
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Elevated... OMIM:300068
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Ectropion, Sparse hair OMIM:242300
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr... OMIM:619208
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia, Pruritus, Edema OMIM:177000
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Moebius Syndrome
Breast aplasia, Epicanthus, Hypogonadotropic hypogonadism, Ptosis, Blepharitis ORPHA:570
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal system morphology, Scleritis, Abs... ORPHA:2273
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena... ORPHA:284426
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Dehydration ORPHA:79312
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis OMIM:602723
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Death in adolescence, Death in childhood, Dehydration OMIM:560000
Propionic Acidemia
Eczematoid dermatitis, Propionyl-CoA carboxylase deficiency, Pancreatitis, Hepatomegaly, Dehydration OMIM:606054
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair ORPHA:59303
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Generalized ichthyosis, Hy... OMIM:612281
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620126
Down Syndrome
Decreased fertility, Upslanted palpebral fissure, Epicanthus, Sparse hair, Blepharitis ORPHA:870
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Orthokeratosis, Cholestasis, Portal hypertension, Ichthyosis, ... OMIM:607626
Juvenile Xanthogranuloma
Uveitis, Blepharitis, Iritis ORPHA:158000
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620125
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo... OMIM:614941
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Dehydration, Abnormal circulating corticosterone level ORPHA:556030
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Parakeratosis, Pruritus, Hyperkeratosis ORPHA:90368
Congenital Short Bowel Syndrome
Steatorrhea, Dehydration OMIM:615237
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormality of the live... ORPHA:398124
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:264350
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Oligohydramnios, Portal hypertension, Hepatic cysts, Splen... OMIM:263200
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Lichen Planopilaris
Pruritus, Hyperkeratosis, Hepatitis ORPHA:525
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Jaundice, Abno... OMIM:147480
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Palpebral edema, Hydrocele testis, ... ORPHA:69735
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Pterygium, Pterygium of nails, Ridged nail, Decreased testic... OMIM:305000
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration ORPHA:27
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... OMIM:614594
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Isovaleric Acidemia
Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts, Dehydration OMIM:243500
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Netherton Syndrome
Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Parakeratosis, Erythroderma, Recurr... OMIM:256500
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Upslanted palpebral fissure, Nail dystrophy, Abnormal toena... ORPHA:140936
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Scleritis, Keratoconjunctivitis, Loss of eyelashe... ORPHA:95159
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Abnormal... ORPHA:1667
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis OMIM:247100
Familial Renal Glucosuria
Dehydration ORPHA:69076
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Abnormality o... ORPHA:906
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Cobblestone-like hyperkeratosis, P... ORPHA:90186
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Dehydration OMIM:177735
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Woolly hair OMIM:619691
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Skin rash ORPHA:317
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Chronic hepatitis, Woolly hair, Uncombable hair, Brittle hair, Colitis, Spa... OMIM:614602
Peeling Skin Syndrome 6
Atopic dermatitis, Parakeratosis, Pruritus, Orthokeratosis OMIM:618084
Mednik Syndrome
Intrahepatic cholestasis, Hyperkeratosis, Ichthyosis ORPHA:171851
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop... OMIM:615522
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Dehydration OMIM:615453
Intellectual Developmental Disorder, Autosomal Recessive 5
Eczematoid dermatitis, Telecanthus, Thick eyebrow, Blepharophimosis, Sparse hair, Synophrys OMIM:611091
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Telecanthus, Alopecia of scalp, Sparse eye... OMIM:615280
Noonan Syndrome 6
Bilateral ptosis, Downslanted palpebral fissures, Cryptorchidism, Low posterior hairline, Epicant... OMIM:613224
Central Diabetes Insipidus
Dehydration ORPHA:178029
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Fair hair, Hypoplastic fingernail, Upslanted palpebral fissure, Epicanthus, Recurrent aspiration ... ORPHA:280633
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Erythroderma, Ectropion, Sparse hair ORPHA:100976
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Elevated circulating hepatic transaminase concentration, Hyperkeratosis, Eczematoid d... OMIM:612379
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Telecanthus... OMIM:110100
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:614576
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans... OMIM:246450
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Fanconi Anemia, Complementation Group S
Long eyelashes, Upslanted palpebral fissure, Ovarian carcinoma, Low anterior hairline, Epicanthus... OMIM:617883
Irida Syndrome
Intrahepatic cholestasis, Hyperkeratosis, Ichthyosis ORPHA:209981
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ichthyosis, De... OMIM:610768
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair OMIM:300406
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hyperkeratosis, Lymphedema ORPHA:79279
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Noonan Syndrome 8
Webbed neck, Eczematoid dermatitis, Pleural effusion, Polyhydramnios, Hyperkeratosis OMIM:615355
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Decreased testicular size, Tiger tail banding, Panhy... OMIM:300953
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema, Thin skin ORPHA:455
Secondary Short Bowel Syndrome
Steatorrhea, Cholestasis, Dehydration ORPHA:95427
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema ORPHA:79452
Tetrasomy 12P
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis, Sparse hair ORPHA:884
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Chromomycosis
Hyperkeratotic papule, Predominantly lower limb lymphedema, Hyperparakeratosis, Lymphedema, Pruri... ORPHA:182
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Congenital nonbullous icht... OMIM:604777
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Thin eyebrow, Sparse eyelashes, Low anterior hairline, Pili torti, Abnorm... ORPHA:1787
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... OMIM:148700
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Sparse pubic hair, Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst,... OMIM:228300
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Congenital Tufting Enteropathy
Steatorrhea, Cholestatic liver disease, Dehydration ORPHA:92050
Johnson Neuroectodermal Syndrome
Alopecia, Downslanted palpebral fissures, Hypogonadism, Absent eyelashes, Absent eyebrow, Sparse ... ORPHA:2316
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Increased circulating ... OMIM:300869
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Downslanted palpebra... ORPHA:3253
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... OMIM:557000
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, R... OMIM:129400
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Filippi Syndrome
Frontal hirsutism, Sparse hair, Cryptorchidism, Hypertrichosis OMIM:272440
Acrokeratosis Verruciformis
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Proteus Syndrome
Hyperkeratosis, Splenomegaly OMIM:176920
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Dehydration OMIM:300200
Shukla-Vernon Syndrome
Sparse hair, Downslanted palpebral fissures OMIM:301029
Cystinosis
Portal hypertension, Dehydration ORPHA:213
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Ptosis, Blepharophimosis,... ORPHA:127
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Alopecia, Sparse body hair ORPHA:177
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Sparse hair, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Epicanthus, Sparse hair, Abnormal toenail morphology ORPHA:1515
Cornelia De Lange Syndrome
Highly arched eyebrow, Long eyelashes, Curly eyelashes, Thick eyebrow, Cryptorchidism, Low anteri... ORPHA:199
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis OMIM:607936
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail banding, Nail dystrophy, Tr... OMIM:601675
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Lacrimal Duct Defect
Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis OMIM:149700
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Prolidase Deficiency
Palmoplantar keratoderma, Splenomegaly, Crusting erythematous dermatitis, Hepatomegaly, Pruritus,... ORPHA:742
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Scleritis, Keratoconjunctivitis, Loss of eyelashe... ORPHA:79277
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Sparse hair, Fine hair, Downslanted palpebral fissures ORPHA:251019
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus ORPHA:83453
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent pneumonia, Skin rash, Colonic eosinophilia, Blepha... OMIM:617718
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Decreased testicular size, Decreased fertility, Sparse body hair ORPHA:2234
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Erythroderma, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Even-Plus Syndrome
Atopic dermatitis, Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair, Anterior hypopituitarism ORPHA:631
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Dehydration OMIM:251000
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Sparse hair, Cryptorchidism, Downslanted palpebral fissures ORPHA:2872
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis ORPHA:816
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Upslanted palpebral fissure, Narrow palpebral fissure, Hirsutism OMIM:618087
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... OMIM:615508
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Upslanted palpebral fissure, Low posterior hairline, Narrow palpebral fissure, Spar... OMIM:619320
Chromosome 5P13 Duplication Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Low posterior hairline, Long palpebral fiss... OMIM:613174
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Hyperaldosteronism, Dehydration OMIM:214700
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Epidermal hyperkeratosis OMIM:620483
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Edema, Lipid accumulation in hepatocytes... ORPHA:20
Lipoid Proteinosis
Pustule, Thickened skin, Hyperkeratosis, Acne ORPHA:530
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Ichthyosis, Splenomegaly, Nonimmune hydrops fetalis... OMIM:608013
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Congenital bullous i... OMIM:607602
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Curly hair, Sparse hair, Synophrys OMIM:620075
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Psoriasis 14, Pustular
Pustule, Parakeratosis, Psoriasiform dermatitis, Cholangitis OMIM:614204
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Pruritus, Hyperker... OMIM:616295
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Hyperkeratosis, Acne inversa ORPHA:79145
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Alopecia, Sparse eyebrow, Sparse pubic hair, Abnormal eyebrow morphology, ... ORPHA:2232
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis, Death in childhood OMIM:614457
Auriculocondylar Syndrome 2B
Telecanthus, Sparse hair, Limbal dermoid, Synophrys OMIM:620458
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Breast hypoplasia, Non-obstructive azoospermia, Azoospermia,... ORPHA:432
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivitis ORPHA:91416
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
46,Xx Gonadal Dysgenesis
Sparse pubic hair, Streak ovary, Decreased fertility, Abnormality of secondary sexual hair, Prima... ORPHA:243
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Incontinentia Pigmenti
Sparse hair, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, B... OMIM:308300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Sparse hair OMIM:616817
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Downslanted palpebral fissures, Polycystic ovaries, Macroorchidism, Spars... ORPHA:284180
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Joint swelling, Skin rash, Splenomegaly, Pustule, Hepatomegaly, Hyperkeratosis OMIM:612852
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Hepatic steatosis, Dehydration OMIM:616271
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus ORPHA:158681
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:620148
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis ORPHA:38
Braddock-Carey Syndrome 1
Telecanthus, Sparse hair, Curly hair, Downslanted palpebral fissures OMIM:619980
Adult Syndrome
Absent nipple, Eczematoid dermatitis, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axi... OMIM:103285
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Papillon-Lefèvre Syndrome
Abnormality of the nail, Periodontitis, Sparse body hair, Hypertrichosis, Abnormal fingernail mor... ORPHA:678
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkera... OMIM:606545
Vipoma
Intrahepatic cholestasis, Increased circulating cortisol level, Ascites, Neoplasm of the pancreas... ORPHA:97282
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infec... OMIM:603165
Leopard Syndrome 3
Webbed neck, Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration OMIM:251110
Beta-Ketothiolase Deficiency
Hepatomegaly, Dehydration, Edema ORPHA:134
Chronic Mucocutaneous Candidiasis
Hepatitis, Pruritus, Hyperkeratosis, Skin rash ORPHA:1334
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Re... ORPHA:98813
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Fine hair ORPHA:1806
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hyperkeratosis OMIM:615279
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Short palpebral fissure, Sparse hair, Upslanted palpebral fissure OMIM:617763
Macs Syndrome
Sparse eyebrow, Alopecia, Downslanted palpebral fissures, Recurrent aphthous stomatitis, Cryptorc... OMIM:613075
Scarf Syndrome
Downslanted palpebral fissures, Cryptorchidism, Low posterior hairline, Epicanthus, Hypoplastic n... ORPHA:3134
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prim... ORPHA:99429
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration OMIM:251100
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Downslanted palpebral fissures OMIM:620001
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... ORPHA:699
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Intrahepatic Cholestasis Of Pregnancy
Pruritus on foot, Elevated circulating hepatic transaminase concentration, Ascites, Cholecystitis... ORPHA:69665
Joubert Syndrome 37
Sparse hair, Decreased testicular size, Ptosis, Cryptorchidism OMIM:619185
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d... ORPHA:1010
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyebrow, Cryptorchidism, Sparse eyelashes, Long palpebral fissure... OMIM:613026
46,Xy Sex Reversal 6
Sparse axillary hair, Chordee, Dysgerminoma, Hirsutism OMIM:613762
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Downslanted palpebral fissures, Low anterior hairline, Epicanthus, Sparse hair, Synophrys ORPHA:391408
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Cryptorchidi... ORPHA:217346
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Death in infancy OMIM:609180
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, T... OMIM:613451
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Cystic Fibrosis
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hepatomegaly, Cirrhosis... OMIM:219700
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:224900
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Sparse facial hair OMIM:608154
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Atopic dermatitis, Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittl... OMIM:225060
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Hyperkeratosis,... OMIM:242100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Sparse hair, Downslanted palpebral fissures OMIM:614105
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Dehydration ORPHA:90791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Ankyloblepharon, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconv... ORPHA:1071
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair, Hypogonadotropic hypogonadism, Ptosis, Downslanted palpebral fissures ORPHA:3068
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa OMIM:617337
Shigellosis
Hepatic failure, Cholestasis, Peritonitis, Splenic abscess, Dehydration ORPHA:810
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
Scarf Syndrome
Downslanted palpebral fissures, Cryptorchidism, Low anterior hairline, Low posterior hairline, Ep... OMIM:312830
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Concave nail, ... OMIM:305100
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Acute Generalized Exanthematous Pustulosis
Facial edema, Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly... ORPHA:293173
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails ORPHA:77258
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Malar rash, Hyperkeratosis ORPHA:163525
X-Linked Agammaglobulinemia
Recurrent pneumonia, Alopecia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunc... ORPHA:47
Bartter Syndrome, Type 3
Hyperaldosteronism, Dehydration OMIM:607364
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Short palpebral fissure, Sparse eyebrow, Telecanthus, Frontal upsweep of h... OMIM:608156
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Hypertriglyceridem... OMIM:610644
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Donohue Syndrome
Hepatic fibrosis, Cholestasis, Pancreatic islet-cell hyperplasia, Acanthosis nigricans, Hyperkera... OMIM:246200
Noonan Syndrome 14
Sparse eyebrow, Downslanted palpebral fissures, Cryptorchidism, Low posterior hairline, Epicanthu... OMIM:619745
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:94093
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Malar rash, Skin rash, Nail dystrophy, Pustule, Myositis, Nailfold capillary tortu... OMIM:615934
Cholera
Dehydration, Miscarriage ORPHA:173
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Alopecia, Annular pancreas, Premature graying of hair, Hypogonadism, Nail dystrop... OMIM:268400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Bronchiectasis, Aspiration pneumonia OMIM:618253
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Fine hair, Downslanted palpebral fissures, Telecanthus, Sparse eyelashes... OMIM:257850
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ... OMIM:150400
Ruijs-Aalfs Syndrome
Hypogonadism, Sparse hair, Premature graying of hair OMIM:616200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Dend Syndrome
Dehydration ORPHA:79134
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Death in childhood OMIM:301108
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Eczematoid dermatitis, Hyperconvex nail OMIM:619721
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Splenome... OMIM:613471
Cardiofaciocutaneous Syndrome
Fine hair, Downslanted palpebral fissures, Sparse or absent eyelashes, Brittle hair, Cryptorchidi... ORPHA:1340
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hyperkeratosis, Eczematoid dermatitis, Thin skin ORPHA:238468
Aredyld Syndrome
Sparse body hair, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Downslanted palpebral fissures, Sparse eyelas... OMIM:250410
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Upslanted palpebral fissure, Abnormal toenail morphology ORPHA:1005
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Supernumerary nipple, Thin eyebrow, Long e... OMIM:615485
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Hamamy Syndrome
Sparse eyebrow, Sparse lateral eyebrow, Neck pterygia, Abnormal number of hair whorls, Telecanthu... OMIM:611174
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756