Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cystatin E/M
Synonyms:
N/A

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 Cst6 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 Cst6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Sparse eyelashes, Dry skin OMIM:618535

The table below shows human diseases predicted to be associated to Cst6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Peeling Skin Syndrome 4
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthoke... OMIM:607936
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Sparse eyebrow, Generalized ichthyosis, Cutis laxa, Absent axillary h... ORPHA:2269
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Sparse hair, Palmoplantar keratoderma, Acantholysis, Erythroderma, Recurrent ski... OMIM:615508
Odontoonychodermal Dysplasia
Hypergranulosis, Dry hair, Sparse body hair, Sparse hair, Anonychia, Erythema, Nail dysplasia, Sp... OMIM:257980
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Sparse hair, Sparse eyelashes, Thick hair, Epidermal acanthosis, Parakeratosis, Alope... OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Epi... OMIM:613943
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Ridged nail, Epidermal acanthosis OMIM:101900
Bathing Suit Ichthyosis
Ichthyosis, Sparse hair, Erythroderma, Scaling skin, Nail dystrophy, Epidermal acanthosis, Parake... ORPHA:100976
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy... ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Cole Disease
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Scaling skin, Sparse axillary hair, Nail dysplasia, S... OMIM:257960
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Hyperkeratosis, Follicular hyperkeratosis, Alopecia of scalp ORPHA:69125
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-re... OMIM:148730
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Cong... OMIM:604777
Bazex Syndrome
Pruritus, Yellow nails, Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Scaling s... ORPHA:166113
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Hyperkeratosis, Acne inversa, Orthokeratosis, Nail dystrophy OMIM:617337
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous... ORPHA:79147
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615598
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Absent toenail, Abnormal fingernail morphology, Hyperkeratosis, Ridged nail, Failure to... ORPHA:89838
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Pityriasis Rubra Pilaris
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Orthokeratosis OMIM:173200
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail ... ORPHA:79503
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dysplasia, Alopecia totalis, S... OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis ORPHA:735
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Epidermal acant... OMIM:616295
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis OMIM:604117
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis, Sparse hair ORPHA:91132
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Scaling skin, Sparse hair, Palmoplantar hyperkeratosis OMIM:604536
Epidermolytic Hyperkeratosis
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Epidermal acanthosis, ... OMIM:113800
Basan Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:129200
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Hypotrichosis 6
Pruritus, Sparse hair, Erythema, Follicular hyperkeratosis, Sparse and thin eyebrow, Brittle hair... OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Erythema, Follicular hyperkeratosis, Alopecia, Inflammatory abnormal... ORPHA:3406
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Cachexia, Alopecia ORPHA:2574
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:617525
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,... ORPHA:317
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Idiopathic Localized Lipodystrophy
Pruritus, Morphea, Scaling skin, Erythema, Scleroderma, Inflammatory abnormality of the skin ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Olmsted Syndrome 2
Pruritus, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Alopecia universalis, Epidermal ... OMIM:619208
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Peeling Skin Syndrome 1
Pruritus, Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture OMIM:270300
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Failure to thrive, Dry skin OMIM:609180
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus, Nail dystrophy OMIM:131850
Transgrediens Et Progrediens Palmoplantar Keratoderma
Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Erythema, Alopecia, Dry skin ORPHA:495
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Acral Peeling Skin Syndrome
Ichthyosis, Scaling skin, Erythema, Excessive wrinkling of palmar skin, Eczema ORPHA:263534
Pachyonychia Congenita 4
Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma OMIM:615728
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce... ORPHA:498359
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Hypergranulosis, Yellow nails, Onycholysis, Palmoplantar keratoder... OMIM:148700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Pal... OMIM:104100
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopecia totalis, Epidermal a... OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Small nail, Palmoplantar keratoderma, Abnormal hair morphology, Hyperkeratosis, ... OMIM:242100
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Hyperkeratosis, Erythema, Alopecia, Eczema, Skin ul... ORPHA:2584
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy ORPHA:79399
Acquired Ichthyosis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infectio... ORPHA:454
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Scaling skin, Erythema, Dry skin OMIM:614457
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Nail dystrophy, Anonychia, Epidermal acanthosis OMIM:616029
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Thin nail, Premature ovarian insuf... OMIM:618625
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Anonychia, Hyperkeratosis, Leukonychia, Punctate palmoplantar hyperkeratosis, Ep... ORPHA:79151
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Follicular hyp... OMIM:613102
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Mal De Meleda
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Hyperkeratosis with er... ORPHA:87503
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Erythroderma, Nail dysplasia, Congenital ichthyosiform erythroderma, Epidermal acant... OMIM:242300
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Tiger tail banding, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Erythema, Parakerato... OMIM:615821
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy,... OMIM:158000
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosif... ORPHA:312
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperconvex nail, Nail dystrophy, Linear array... OMIM:601952
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Absent eyebrow, Generalized keratosi... ORPHA:2890
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis OMIM:609165
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Keratoderma Hereditarium Mutilans
Ichthyosis, Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Alope... ORPHA:494
Olmsted Syndrome 1
Pruritus, Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopec... OMIM:614594
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Absent eyelashes, Erythroderma, Scaling skin, Absent eyebrow, Nail dysplasia, Fol... OMIM:308205
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring al... OMIM:602540
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Nail dysplasia, Follicular hyperkeratosis, Spa... ORPHA:1809
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Thin skin, Absent eyebrow, Decreased body weight, Sparse and thin ... ORPHA:2985
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse hair, Palmoplantar keratoderma, Onycholysis, Ridged nail, Apocrine hid... OMIM:224750
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Acrokeratosis, Abnormality of the nail ORPHA:38
Rare Cutaneous Lupus Erythematosus
Abnormality of the periungual region, Pterygium of nails, Leukonychia, Scaling skin, Maculopapula... ORPHA:535
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplant... OMIM:613576
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Palmar pruritus, Facial erythema, Pruritus on foot, Eczematoid der... ORPHA:64745
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Hyperkeratosis, Curly hair, Congenital ichthyosiform erythroderma, Sparse and thin e... OMIM:602400
Palmoplantar Keratoderma And Woolly Hair
Palmoplantar keratoderma, Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body ha... OMIM:616099
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Ridged fingernail, Fingernai... ORPHA:2251
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Lamellar Ichthyosis
Pruritus, Ichthyosis, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Aplasia... ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep... OMIM:133200
Trichodysplasia-Xeroderma
Trichodysplasia, Dry hair, Sparse hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Sparse scalp hair, Brittle hair, Fine hair, Pili torti ORPHA:1573
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
Centrifugal Lipodystrophy
Erythema, Scaling skin, Alopecia, Inflammatory abnormality of the skin ORPHA:90156
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Chilblain Lupus
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma... ORPHA:90280
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow, Absent axi... OMIM:618419
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Erythroderma, Scaling skin, Failure to thrive in infancy, Patchy alopec... OMIM:606367
Lichen Planopilaris
Pruritus, Onycholysis, Hyperkeratosis, Alopecia, Skin ulcer, Abnormal fingernail morphology ORPHA:525
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Cutis laxa, Scaling skin, Dry skin OMIM:105250
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules, Dry skin OMIM:146700
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quantity, Thin skin,... ORPHA:238468
Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Ichthyosis, Dry skin ORPHA:461
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Prolidase Deficiency
Pruritus, Low anterior hairline, Palmoplantar keratoderma, Abnormal fingernail morphology, Thin s... ORPHA:742
Leopard Syndrome 3
Hyperkeratosis, Webbed neck, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Dry skin OMIM:613707
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis, Nail dysplasia, Sparse and thin eye... OMIM:607655
Aicardi-Goutieres Syndrome 5
Scaling skin, Chilblains, Dry skin OMIM:612952
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Abnormality of the nail, Facial erythema, Palmoplantar keratoderma, Sparse eyelashe... OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis, Cong... OMIM:612281
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism, Failure to thrive ORPHA:3019
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Atopic dermatitis, Thick eyebrow, Sparse hair OMIM:606242
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Cutis laxa, Hypertrichosis, Eczema OMIM:612379
Noonan Syndrome 8
Cryptorchidism, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Curly hair, Failure to thri... OMIM:615355
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Small for gestational age, Alopecia, Long eyebrows, ... OMIM:275400
Ectodermal Dysplasia-Skin Fragility Syndrome
Pruritus, Chapped lip, Sparse hair, Palmoplantar keratoderma, Scaling skin, Follicular hyperkerat... ORPHA:158668
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Webbed neck, Curly hair, Failure to thrive OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis OMIM:615022
Darier Disease
Pruritus, Acrokeratosis, Abnormality of the nail, Palmoplantar keratoderma, Abnormal hair morphol... ORPHA:218
Focal Palmoplantar And Gingival Keratoderma
Abnormality of the nail, Palmoplantar keratoderma, Gingival hyperkeratosis, Focal friction-relate... ORPHA:2200
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Dry skin OMIM:617073
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Dermoodontodysplasia
Trichodysplasia, Thin skin, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse bo... ORPHA:1660
Vulvovaginal Gingival Syndrome
Pruritus, Ridged nail, Erythema, Epidermal acanthosis, Parakeratosis ORPHA:83453
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Palmar hyperkeratosis, Nail dysplasia, Alopecia, Plantar hyperkeratosis, N... ORPHA:79397
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Thin skin, Sparse body hair, Eczema, Abnormal fingernail morphology ORPHA:1810
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Sparse scalp hair, Follicular hyperkeratosis, Brittl... OMIM:262020
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Palmoplantar keratoderma, Sparse eyelashes, Hyperconvex nail, Sparse ax... ORPHA:189
Psoriasis 14, Pustular
Pustule, Erythema, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis, Nail dystrophy OMIM:614204
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Palmoplantar keratoderma, Scarring alopecia of scalp, Sparse body hair, Nail dystrophy ORPHA:79402
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Obesity ORPHA:85274
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infections, Scaling skin, Eryt... ORPHA:294023
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair, Failure to thrive OMIM:616353
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Sparse hair, Dry hair, Coarse hair, Plantar hyperkeratosis, Onychogryposis of toenails OMIM:164680
Immunodeficiency 58
Psoriasiform lesion, Ichthyosis, Cutaneous abscess, Seborrheic dermatitis, Scaling skin, Molluscu... OMIM:618131
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Palmoplantar keratoderma, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyelashes, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine h... OMIM:129490
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Sparse body hair, Decreased testicular size, ... ORPHA:261483
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Hyperkeratosis, Erythroderma, Tiger tail banding, Fragile nails, Nail dy... OMIM:601675
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis, Dry skin, Erythema ORPHA:816
Porokeratosis 3, Multiple Types
Porokeratosis, Nail dystrophy, Parakeratosis OMIM:175900
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle, Abnormality of the nail ORPHA:254478
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number ORPHA:352470
Barth Syndrome
Abnormal mitochondrial morphology, Failure to thrive OMIM:302060
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Long eyelashes, Epidermal acanthosis, Failure to thrive OMIM:616069
Netherton Syndrome
Brittle scalp hair, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Failu... OMIM:256500
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Sparse hair, Alopecia, Fine hair ORPHA:1839
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Hyperkeratosis, Dry skin, Fine hair, Abnormal fingernail morph... ORPHA:1028
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Filippi Syndrome
Cryptorchidism, Sparse hair, Decreased body weight, Hypertrichosis, Frontal hirsutism OMIM:272440
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Rosselli-Gulienetti Syndrome
Palmoplantar hyperkeratosis, Nail dysplasia, Sparse and thin eyebrow, Progressive hypotrichosis, ... OMIM:225000
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Follicular hyperkeratosis, Epidermal acanthosis, Parakeratosis, Nail dy... OMIM:615225
Pachyonychia Congenita
Onychogryposis of fingernail, Palmoplantar keratoderma, Paronychia, Fingernail dysplasia, Palmar ... ORPHA:2309
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Alopecia-Intellectual Disability Syndrome
Ichthyosis, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:2850
Lipoid Proteinosis
Pustule, Hyperkeratosis, Alopecia of scalp, Thickened skin, Acne ORPHA:530
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyelashes, Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair text... OMIM:225060
Costello Syndrome
Cryptorchidism, Hypoplastic toenails, Abnormal hair morphology, Acanthosis nigricans, Hyperkerato... ORPHA:3071
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma, Alopecia, Failure to thrive ORPHA:169154
Lymphatic Malformation 4
Hyperkeratosis, Hydrocele testis, Toenail dysplasia OMIM:615907
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Pityriasis Rubra Pilaris
Pruritus, Ichthyosis, Pustule, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, S... ORPHA:2897
Aredyld
Generalized hypotrichosis OMIM:207780
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail, Epidermal acanthosis OMIM:181600
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Sparse lateral eyebrow, Distichiasis ORPHA:79133
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:616901
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Thin skin, Erythema ORPHA:455
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Hawkinsinuria
Fine hair, Sparse hair, Failure to thrive ORPHA:2118
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Palmoplantar keratoderma, Erythema, Alopecia, Thickened skin, Skin ulcer, Abnormal f... ORPHA:659
Porphyria Cutanea Tarda
Cutaneous abscess, Recurrent bacterial skin infections, Hirsutism, Scaling skin, Hypertrichosis ORPHA:101330
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Sparse hair, Thin skin, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent ... ORPHA:217346
Restrictive Dermopathy
Generalized hyperkeratosis, Sparse eyebrow, Dermal translucency, Sparse hair, Webbed neck, Epider... ORPHA:1662
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redundant skin, Cutis laxa, Long ... ORPHA:2963
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Small nail, Anonychia, Hyperkeratotic papule, Abnormal toenail morphology, Skin vesicle... ORPHA:79410
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Skin vesicle, Erythema migrans, Parakeratosis ORPHA:158681
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Small for gestational age, Brittle hair, Failure to thrive, Pili ca... OMIM:614602
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Acanthosis nigricans, Scarring alopecia of scalp, Sparse scalp hair, Sparse and thin ... ORPHA:59303
Lelis Syndrome
Yellow nails, Sparse hair, Acanthosis nigricans, Sparse lateral eyebrow, Absent lower eyelashes, ... ORPHA:140936
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Abnormality of the nail, Sparse hair, Absent eyelashes, Thin skin, Absent eyebr... OMIM:607823
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hyperkeratosis, Fine hair, Skin ulcer, Abnormal fingernail morphology ORPHA:1806
Pachyonychia Congenita 2
Folliculitis, Dry hair, Subungual hyperkeratosis, Nail dysplasia, Sparse scalp hair, Sparse and t... OMIM:167210
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Hyperkeratosis, Ridged nail, Coarse hair, Breast aplas... OMIM:308300
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Bazex Syndrome
Atopic dermatitis, Trichorrhexis nodosa, Sparse hair, Coarse hair, Trichoepithelioma, Eczema, Acn... OMIM:301845
Cardiofaciocutaneous Syndrome
Cryptorchidism, Ichthyosis, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Webbed neck, R... ORPHA:1340
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Ichthyosis, Alopecia, Dry skin ORPHA:177
Crandall Syndrome
Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse bod... ORPHA:202
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Elevated circulating thyroid-stimulating hormone concentration, Sparse hair OMIM:601812
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Long eyelashes, Sparse scalp hair, Thick eyebrow, Hypertrichosis OMIM:614608
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Dermal translucency, Sparse hair, Thin skin, Cutis laxa, Excessive wrinkled skin,... OMIM:614438
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Cryptorchidism, Sparse hair, Abnormal testis morphology, Long eyelashes, A... ORPHA:3051
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Abnormal eyelash morphology, Leukonychia, Scaling skin, Erysipelas, Thi... ORPHA:2526
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Donohue Syndrome
Ovarian cyst, Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis, Severe failur... OMIM:246200
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Cryptorchidism, Overweight, Dry skin ORPHA:486815
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Sparse facial hair, Absent facial hair, Low posterior hairline, Obesity ORPHA:2183
Mental Retardation, Autosomal Recessive 5
Sparse hair, Synophrys, Thick eyebrow, Small for gestational age, Eczema OMIM:611091
Kid Syndrome
Cryptorchidism, Ichthyosis, Generalized hyperkeratosis, Hypoplastic toenails, Sparse hair, Palmop... ORPHA:477
Macs Syndrome
Cryptorchidism, Ichthyosis, Sparse hair, Redundant skin, Cutis laxa, Decreased body weight, Spars... OMIM:613075
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Ichthyosis, Testicular seminoma ORPHA:281090
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Popov-Chang syndrome
Hyperkeratosis, Coarse hair, Failure to thrive, Dry skin OMIM:618428
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Rat-Bite Fever
Skin rash, Pustule, Scaling skin, Maculopapular exanthema, Weight loss, Morbilliform rash, Erythe... ORPHA:31205
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Redundant skin, Sparse lateral eyebrow, Sparse lower eyelashe... ORPHA:1807
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Graft Versus Host Disease
Scaling skin, Maculopapular exanthema, Failure to thrive, Inflammatory abnormality of the skin ORPHA:39812
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Juvenile Idiopathic Arthritis
Skin rash, Nail pits, Generalized hyperkeratosis, Abnormality of the nail, Thickened skin, Psoria... ORPHA:92
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Acantholysis, Absent fingernail, Alopecia totalis, Neonatal death, Alopecia universalis OMIM:609638
Papillon-Lefèvre Syndrome
Generalized hirsutism, Pustule, Abnormality of the nail, Palmoplantar keratoderma, Abnormal finge... ORPHA:678
Naxos Disease
Onycholysis, Palmoplantar keratoderma, Acantholysis, Curly hair, Sparse and thin eyebrow, Epiderm... OMIM:601214
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, Ichthyosis, Sparse hair, Hyperkeratosis, Webbed neck, Curly hair, Long eyelashes,... OMIM:607721
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Ichthyosis, Congenital ichthyosiform erythroderma ORPHA:457
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Dry skin, Sparse hair, Acanthosis nigricans OMIM:268020
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkerato... OMIM:615726
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology ORPHA:1005
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Sparse facial hair, Sparse axillary hair, Small for gestational age, Failure to th... OMIM:608154
Ifap Syndrome 2
Perioral erythema, Atrichia, Sparse hair, Ichthyosis follicularis, Nail dystrophy OMIM:619016
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Abnormality of the nail, Hyperkeratosis, Broad nail, Erythema, Abnormal toen... ORPHA:1334
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Sparse hair, Absent eyelashes, Epidermal hyperkeratosis, Absent eyebrow, Sparse... OMIM:137940
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Epidermal acanthosis, Failure to thrive, ... OMIM:617388
Darier-White Disease
Pruritus, Acrokeratosis, Acantholysis, Subungual hyperkeratotic fragments, Ridged nail, Enlargeme... OMIM:124200
Bone Marrow Failure Syndrome 3
Cryptorchidism, Small nail, Sparse hair, Hyperkeratosis, Failure to thrive, Aplasia/Hypoplasia of... OMIM:617052
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormality of the nail, Stillbirth, Hyperkeratosis, Erythema, Congenital ichthyosiform erythrode... OMIM:308050
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Pachyonychia Congenita 1
Follicular hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer, Adenoma sebaceum ORPHA:493
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Hyperkeratosis, Failure to thrive in infancy, Epidermal acanthosis OMIM:612852
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Bacterial Toxic-Shock Syndrome
Skin rash, Recurrent skin infections, Scaling skin, Ecchymosis ORPHA:36234
Milroy Disease
Hyperkeratosis, Hydrocele testis, Erysipelas, Toenail dysplasia ORPHA:79452
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Ichthyosis, Hyperkeratosis, Recurrent bacterial skin infections, Trichiasis, Nail dysplasia, Spar... OMIM:148210
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Frontal upsweep of hair, Failure to thrive in infancy, Broad eyebrow OMIM:301220
Gand Syndrome
Sparse hair OMIM:615074
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Anterior hypopituitarism, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Werner Syndrome
Slender build, Ovarian neoplasm, Premature graying of hair, Abnormal hair whorl, Hyperkeratosis, ... ORPHA:902
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Failure to thrive ORPHA:91130
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Noonan Syndrome 6
Cryptorchidism, Sparse hair, Webbed neck, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Reticular Dysgenesis
Skin rash, Weight loss, Failure to thrive, Abnormality of mitochondrial metabolism, Skin ulcer ORPHA:33355
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Synophrys, Nail dystrophy,... ORPHA:3253
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Sparse eyelashes, Dry skin OMIM:618535
Menkes Disease
Cutis laxa, Sparse hair OMIM:309400
Arthrogryposis And Ectodermal Dysplasia
Trichodysplasia, Hyperkeratosis, Trichiasis, Absent eyebrow, Nail dysplasia, Dry skin OMIM:601701
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Cachexia, Dystrophic fingernails, Dystro... ORPHA:2930
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Sparse eyelashes, Hypoplastic nipples, Sparse scalp hair, Sparse late... OMIM:614941
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Atopic dermatitis, Sparse hair, Absent eyelashes, Hyperkeratosis, Webbed neck, Curly ... OMIM:115150
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small for gestational age, Abdominal ob... OMIM:300869
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Sparse hair, Decreased body weight OMIM:615349
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Erythema nodosum, Failure to thrive OMIM:614700
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar rash, Psoriasiform dermat... ORPHA:85436
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Coarse hair, Sparse hair OMIM:118650
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Thin skin, Pili canaliculi, Progressiv... OMIM:129400
Pemphigus Vulgaris
Weight loss, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Periungual erythema, Sparse hair, Erythema, Malar rash, Pustular rash, Failur... OMIM:615934
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Sparse eyelashes, Absent eyelashes, Thin skin, Absent eyebrow, Hypopl... OMIM:305100
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Sparse hair, Thin skin, Cutis laxa, Failure to thrive OMIM:219150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Hirsutism, Long eyelashes, Thick eyebrow OMIM:616819
Neonatal Lupus Erythematosus
Skin rash, Hyperkeratosis, Maculopapular exanthema, Malar rash, Parakeratosis ORPHA:398124
Mandibuloacral Dysplasia
Sparse hair, Acanthosis nigricans, Thin skin, Hypoplastic fingernail, Alopecia ORPHA:2457
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Alopecia Antibody Deficiency
Sparse body hair, Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Noonan Syndrome 10
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Webbed neck, Curly hair, Palmoplantar cutis laxa OMIM:616564
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Xeroderma Pigmentosum
Cryptorchidism, Thin skin, Hyperkeratosis, Erythema, Failure to thrive, Alopecia, Thickened skin,... ORPHA:910
Incontinentia Pigmenti
Skin rash, Abnormality of the nail, Abnormal hair morphology, Hyperkeratosis, Broad nail, Ridged ... ORPHA:464
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Chromomycosis
Hyperkeratosis, Pruritus, Hyperkeratotic papule, Hyperparakeratosis ORPHA:182
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Failure to thrive, Dry skin OMIM:614576
Scarf Syndrome
Cryptorchidism, Sparse hair, Webbed neck, Cutis laxa, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Adult Syndrome
Nail pits, Absent nipple, Breast hypoplasia, Thin skin, Sparse axillary hair, Fair hair, Hypoplas... OMIM:103285
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Fine hai... OMIM:211370
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Cryptorchidism, Small for gestational age, Sparse hair OMIM:616817
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Low anterior hairline, Sparse hair, Synophrys, Decreased body weight, Small for gestational age, ... ORPHA:391408
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Rothmund-Thomson Syndrome
Skin rash, Abnormality of the nail, Sparse eyebrow, Small nail, Sparse hair, Porokeratosis, Palma... ORPHA:2909
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Erythroderma, Congenital ichthyosiform erythroderma, Sparse and thin eyebrow, Failur... OMIM:302960
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Dry skin OMIM:614940
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sparse hair OMIM:273390
Riddle Syndrome
Scaling skin, Weight loss, Erythema ORPHA:420741
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Long eyelashes, Failure to thrive OMIM:617883
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries, Truncal obesity ORPHA:284180
2Q32Q33 Microdeletion Syndrome
Fine hair, Decreased testicular size, Sparse hair ORPHA:251019
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Sparse hair, Distichiasis OMIM:119580
Cranioectodermal Dysplasia
Abnormal toenail morphology, Sparse hair, Abnormal fingernail morphology ORPHA:1515
Tetrasomy 12P
Sparse hair, Sparse and thin eyebrow, Cachexia ORPHA:884
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia, Failure to thrive ORPHA:2316
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Palmoplantar keratoderma, Anonychia, Hyperconvex nail, Patchy alopecia, Sparse ... OMIM:106260
Chronic Actinic Dermatitis
Pruritus, Erythroderma, Epidermal acanthosis, Eczema, Late onset atopic dermatitis ORPHA:330064
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Even-Plus Syndrome
Highly arched eyebrow, Atopic dermatitis, Sparse hair, Synophrys OMIM:616854
Tyrosinemia Type 2
Hyperkeratosis, Abnormality of the nail, Palmoplantar keratoderma ORPHA:28378
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Small nail, Palmoplantar keratoderma, Sclerodactyly, Decreased tes... OMIM:610644
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Sparse hair, Abnormal hair whorl ORPHA:2872
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Scarf Syndrome
Low anterior hairline, Cryptorchidism, Sparse hair, Webbed neck, Cutis laxa, Hypoplastic nipples,... OMIM:312830
Gaucher Disease, Perinatal Lethal
Ichthyosis, Purpura, Hyperkeratosis, Decreased body weight, Petechiae, Congenital nonbullous icht... OMIM:608013
Pemphigus Foliaceus
Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Decreased testicular size, Eunuchoid habitus, Obesity ORPHA:2234
Woodhouse-Sakati Syndrome
Scaling skin, Streak ovary, Alopecia, Aplasia/Hypoplasia of the eyebrow, Decreased testicular siz... ORPHA:3464
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Sparse hair, Tiger tail banding, Slow-growing hair OMIM:300953
Progeroid Facial Appearance With Hand Anomalies
Sparse hair OMIM:602249
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Sparse eyebrow, Sparse hair, Sparse eyelashes, Nail dysplasia, Failure to thrive,... OMIM:613026
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Sparse hair, Sparse lateral eyebrow, Thin eyebrow, Pili torti, Sparse eyel... ORPHA:1787
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Small for gestational age, Sparse hair OMIM:613174
Mcdonough Syndrome
Cryptorchidism, Hypoplastic toenails, Sparse hair, Synophrys OMIM:248950
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Sparse hair OMIM:610756
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Nail pits, Sparse hair, Thin skin, Hyperkeratosis, Sparse axillary hair, Decrease... OMIM:129900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Sparse hair, Webbed neck, Hypoplastic nipples, Large for gestational age, Fine hair, Palmoplantar... OMIM:280000
Lethal Acantholytic Erosive Disorder
Absent toenail, Absent eyelashes, Acantholysis, Absent fingernail, Absent eyebrow, Absent hair, C... ORPHA:158687
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Eec Syndrome
Nail pits, Anterior hypopituitarism, Hyperkeratosis, Coarse hair, Decreased response to growth ho... ORPHA:1896
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Ullrich Congenital Muscular Dystrophy 1
Slender build, Follicular hyperkeratosis, Failure to thrive OMIM:254090
Reactive Arthritis
Pustule, Abnormality of the nail, Hyperkeratosis, Weight loss, Dystrophic fingernails ORPHA:29207
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hyperkeratosis, Long eyelashes, Weight loss, Thickened skin ORPHA:79430
Short Syndrome
Alopecia, Excessive wrinkled skin, Sparse hair, Weight loss ORPHA:3163
Chime Syndrome
Ichthyosis, Sparse hair, Hyperkeratosis, Erythema, Fine hair, Skin ulcer ORPHA:3474
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Redundant skin, Cutis laxa, Coarse hair, Redundant neck skin, Failure to... ORPHA:357074
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Sparse hair, Truncal obesity, Thick eyebrow, Decreased testicular size ORPHA:127
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:224900
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia, Decreased testicular size OMIM:147770
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Facial erythema, Sparse hair, Porokeratosis, Nail dysplasia, Alopecia totalis, Sm... ORPHA:221008
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse hair, Palmoplantar keratoderma, Hyperconvex nail, Coarse hair, Hyperconvex fingernails, Sp... ORPHA:1071
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Skin ulcer, Recurrent bacterial skin ... ORPHA:90186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Cryptorchidism, Dermal translucency, Sparse hair, Thin skin, Webbed neck, ... OMIM:617506
Atypical Werner Syndrome
Ovarian neoplasm, Abnormal hair morphology, Abnormal hair quantity, Thin skin, Hyperkeratosis, Pr... ORPHA:79474
Ramon Syndrome
Hyperkeratosis, Hypertrichosis, Decreased body weight OMIM:266270
Noonan Syndrome 2
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Low posterio... OMIM:605275
Glass Syndrome
Thin skin, Nail dysplasia, Sparse hair OMIM:612313
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse hair, Alopecia, Sparse eyelashes OMIM:613451
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Sparse hair, Synophrys OMIM:619320
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Facial erythema, Sparse hair, Porokeratosis, Erythema, Nail dysplasia, Alopecia t... ORPHA:221016
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Leprosy
Penetrating foot ulcers, Hyperkeratosis, Absent eyebrow, Loss of eyelashes, Acral ulceration, Alo... ORPHA:548
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Hypoplasia of the thymus, Alopecia of scalp, Abnormality of the duct... ORPHA:436252
Fucosidosis
Generalized hyperkeratosis, Abnormality of the nail, Failure to thrive ORPHA:349
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Skin v... ORPHA:555905
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Ablepharon Macrostomia Syndrome
Sparse hair, Absent eyelashes, Breast hypoplasia, Thin skin, Redundant skin, Absent eyebrow, Abno... ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Nail pits, Hyperkeratosis, Sparse axillary hair, Decreased response to growth hor... OMIM:604292
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Gapo Syndrome
Sparse eyebrow, Sparse hair, Breast hypoplasia, Redundant skin, Nail dysplasia, Hypoplastic nippl... OMIM:230740
Nablus Mask-Like Facial Syndrome
Low anterior hairline, Highly arched eyebrow, Cryptorchidism, Sparse hair, Hypoplastic nipples, S... OMIM:608156
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Leukonychia, Slow-growing hair, Concave nail, Thin nail, Sparse lateral eyebrow, Thi... OMIM:190350
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Absent eyelashes, Absent eyebrow, Sparse scalp hair, Alopecia, Sparse body hair ORPHA:69735
Dyskeratosis Congenita
Abnormal eyebrow morphology, Sparse hair, Palmoplantar keratoderma, Premature graying of hair, Ab... ORPHA:1775
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Ichthyosis, Abnormality of the nail, Sparse hair, Thin fingernail, Abnormal hair ... ORPHA:2273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Seborrheic dermatitis, Cryptorchidism, Superficial dermal perivascular inflammatory inf... ORPHA:83617
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebro... ORPHA:363618
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Sparse hair, Oligospermia, Breast hypoplasia, Nail dysplasia, Small for gestational age OMIM:614813
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Failure to thrive ORPHA:543470
Cartilage-Hair Hypoplasia
Sparse hair, Sparse facial hair, Fair hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:250250
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hallermann-Streiff Syndrome
Cryptorchidism, Sparse hair, Sparse eyelashes, Sparse scalp hair, Sparse and thin eyebrow, Small ... OMIM:234100
Leprechaunism
Acanthosis nigricans, Hyperkeratosis, Enlarged ovaries, Decreased body weight, Facial hypertricho... ORPHA:508
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... ORPHA:17
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Cachexia, Weight loss ORPHA:298
Trichorhinophalangeal Syndrome Type 1 And 3
Sparse hair, Leukonychia, Sparse and thin eyebrow, Fragile nails, Sparse eyelashes ORPHA:77258
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
De Barsy Syndrome
Cryptorchidism, Dermal translucency, Sparse hair, Thin skin, Cutis laxa, Failure to thrive, Exces... ORPHA:2962
Adams-Oliver Syndrome
Sparse hair, Absent fingernail, Hypoplastic fingernail, Alopecia, Failure to thrive, Aplastic/hyp... ORPHA:974
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Abnormality of mitochondrial metabolism ORPHA:1192
Aredyld Syndrome
Sparse body hair, Cachexia, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Sparse hair, Failure to thrive OMIM:602613
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Stillbirth, Hyperkeratosis, Sparse scalp hair, Dry skin, Sparse and thin eyebrow,... OMIM:210710
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Azoospermia, Erythema ORPHA:99
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair OMIM:190351
Agel Amyloidosis
Pruritus, Sparse hair, Cutis laxa, Nail dystrophy, Dry skin ORPHA:85448
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Truncal obesity, Sparse hair, Acanthosis nigricans OMIM:616541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Sparse eyebrow, Sparse hair, Premature graying of hair, Absent eyelashes, Annular... OMIM:268400
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Palmoplantar keratoderma, Curly hair, Slow-growing hair, Br... ORPHA:2710
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Tooth Agenesis, Selective, 4
Short eyelashes, Sparse eyebrow, Sparse hair, Dry skin OMIM:150400
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Sparse hair, Thin skin, Cutis laxa, Failure to thrive OMIM:151050
Mycetoma
Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections ORPHA:2583
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Hirsutism, Long eyelashes, Thick eyebrow, Failure to thrive OMIM:212066
Monosomy 22
Seborrheic dermatitis, Aplasia of the thymus, Sparse hair, Synophrys, Thickened skin, Scleroderma ORPHA:96123
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Cutis laxa, Short nail, Fine hair, Dry skin OMIM:614099
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Abnormality of mitochondrial metabolism, Failure to thrive ORPHA:88639
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism OMIM:615330
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, Female hypogonadism,... ORPHA:432
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
6Q Terminal Deletion Syndrome
Low anterior hairline, Highly arched eyebrow, Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Trichohepatoenteric Syndrome 1
Sparse hair, Curly hair, Small for gestational age, Brittle hair, Failure to thrive, Woolly hair,... OMIM:222470
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Alacrima, Achalasia, And Mental Retardation Syndrome
Hyperkeratosis OMIM:615510
Kaufman Oculocerebrofacial Syndrome
Thin skin, Sparse and thin eyebrow, Sparse hair, Failure to thrive OMIM:244450
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Sparse hair, Premature graying of hair, Ridged nail, Alopecia, Nail dystrophy OMIM:127550
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Abnormal eyebrow morphology, Increased circulating gonadotropin level, Aplasia of... ORPHA:2232
Weaver Syndrome
Cryptorchidism, Hydrocele testis, Sparse hair, Deep-set nails, Cutis laxa, Thin nail, Fine hair OMIM:277590
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair, Sparse body hair OMIM:608615
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Abnormality of the mitochondrion, Cryptorchidism, Failure to thrive OMIM:214110
Koolen-De Vries Syndrome Due To A Point Mutation