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Gene: Dgat1 MGI:1333825

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
diacylglycerol O-acyltransferase 1
Synonyms:
D15Ertd23e

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Dgat1 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 Dgat1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Vomiting, Diarrhea OMIM:615863

The table below shows human diseases predicted to be associated to Dgat1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratos... ORPHA:317
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis, Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, ... OMIM:604536
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... ORPHA:90368
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Epidermal acanthosis, Multiple joint contractures, Palmoplantar hyperker... ORPHA:100976
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Mal De Meleda
Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Flexion contracture... ORPHA:87503
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... ORPHA:2269
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormality... ORPHA:2584
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis, Palmoplantar keratoderma OMIM:617524
Quinquaud Folliculitis Decalvans
Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Familial Reactive Perforating Collagenosis
Diabetes mellitus, Abnormal fingernail morphology, Abnormal epidermal morphology, Hyperkeratotic ... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Ulerythema Ophryogenesis
Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Sparse lateral eyebrow ORPHA:3406
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyperkeratoti... ORPHA:79100
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperhidrosis, Palmoplantar hyp... OMIM:615598
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Hyperhidrosis OMIM:248300
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Poor wound healing, ... ORPHA:101330
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema ORPHA:222
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin... OMIM:607602
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... OMIM:257980
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hypohi... OMIM:242100
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... OMIM:605676
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Alopecia, Palmoplantar hyperkerat... ORPHA:79395
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Eryt... ORPHA:90156
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop... ORPHA:166113
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat, Scaling ... ORPHA:90158
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Thyroiditis, Hepatosplenomegaly, Patchy al... OMIM:606367
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Acquired Ichthyosis
Hyperkeratosis, Erythema, Dry skin, Palmoplantar keratoderma ORPHA:454
Prolidase Deficiency
Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin... ORPHA:742
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Epidermal acanthosis OMIM:101900
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia OMIM:619324
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ... ORPHA:324575
Necrobiosis Lipoidica
Diabetes mellitus, Telangiectasia of the skin, Abnormality of the thyroid gland, Erythema, Skin u... ORPHA:542592
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal... OMIM:612281
Ichthyosis With Confetti
Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Decreased body weight, Hypertrich... OMIM:609165
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Interphalangeal joint contracture of finger... ORPHA:2199
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort... OMIM:607936
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratode... ORPHA:659
Moynahan Syndrome
Alopecia, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair ORPHA:2574
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat, Vasculit... ORPHA:90159
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis, Fragile skin OMIM:615028
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Joint contracture, Dry skin OMIM:614457
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Urticaria, Hyperkeratosis, Dry skin ORPHA:816
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkerat... OMIM:616295
Cutaneous Mastocytoma
Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushing, Dermatographic urticar... ORPHA:79455
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Poor wound healing, Pituitary adenoma, Hirsutism, Increased circulati... OMIM:219090
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Urticaria, Palmoplantar keratoderma, Fingernail dysplasia, Spa... ORPHA:2251
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Erythema, Weight loss, Urticaria ORPHA:703
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... OMIM:224750
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Palmoplantar hyperkeratosis, Telangiectasia... ORPHA:158673
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Portal hypertensio... OMIM:607626
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... ORPHA:248
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... ORPHA:79397
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, ... ORPHA:1010
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Ectodermal ... ORPHA:2890
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Hypohidrosis, Fine hair, Ectode... OMIM:129490
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Multinodular goiter, Alopecia of scalp, Palmoplantar kerat... OMIM:618373
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Hypogonadotropic hypogonadism, Decreased response to growth ... OMIM:275400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Scaling skin OMIM:270300
Keratolytic Winter Erythema
Erythema, Hyperhidrosis ORPHA:50943
Basan Syndrome
Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Flexion con... OMIM:129200
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Cutaneous phot... OMIM:176100
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, W... OMIM:615821
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Thin skin, Trichodys... ORPHA:1660
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse ... OMIM:613576
L-Ferritin Deficiency
Restless legs, Alopecia OMIM:615604
Kid Syndrome
Psoriasiform dermatitis, Epidermal acanthosis, Sparse eyelashes, Progeroid facial appearance, Spa... ORPHA:477
Sydenham Chorea
Erythema, Inappropriate behavior, Compulsive behaviors ORPHA:306731
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Alopecia totalis, Abnormality of the nail OMIM:302000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Parakeratosis, Psoriasiform lesion, Scaling skin ORPHA:284426
Hydroa Vacciniforme
Hydroa vacciniforme, Telangiectasia of the skin, Scarring, Erythema, Cutaneous photosensitivity ORPHA:330058
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Erythema, Nail dystrophy OMIM:614204
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Erythema, Epidermal acanthosis ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... OMIM:617525
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Darier's sign, Urticaria, Abnormality of the liver, Derm... ORPHA:79456
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Lupus Erythematosus Tumidus
Cutaneous photosensitivity, Scarring, Scaling skin ORPHA:90283
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... OMIM:308800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Failure to thrive OMIM:609180
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, I... OMIM:615830
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis OMIM:113800
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Palmoplantar keratoderma, S... OMIM:618535
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Hypog... ORPHA:3363
Mastocytosis, Cutaneous
Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... OMIM:612843
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Delayed p... OMIM:615704
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Increased circ... ORPHA:189427
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Aggressive behavior, Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular m... OMIM:247100
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Male hy... OMIM:618625
Aicardi-Goutieres Syndrome 5
Dry skin, Flexion contracture, Scaling skin OMIM:612952
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Erythema ORPHA:33314
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Hypohidrosis, Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, Nail d... ORPHA:158668
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm... OMIM:613573
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa... ORPHA:2985
Recon Progeroid Syndrome
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... OMIM:620370
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Abnormal biliary trac... ORPHA:438274
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, ... ORPHA:2047
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma OMIM:606545
Acrogeria
Lipoatrophy, Prematurely aged appearance, Telangiectasia of the skin, Skin ulcer, Fine hair, Exce... ORPHA:2500
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S... OMIM:614931
Familial Cold Urticaria
Urticaria, Polydipsia, Erythema, Hyperhidrosis ORPHA:47045
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dry skin... OMIM:610768
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Dry skin, Ski... ORPHA:37
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis ORPHA:525
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Alopecia of scalp, ... OMIM:201100
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, S... ORPHA:494
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Ectodermal dysplasia, Abnormal odontoid tissue morphology ORPHA:401911
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Nail dys... ORPHA:158681
Transgrediens Et Progrediens Palmoplantar Keratoderma
Plantar hyperkeratosis, Hyperconvex nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic p... ORPHA:495
Lig4 Syndrome
Hepatomegaly, Telangiectasia of the skin, Erythema, Low anterior hairline, Type II diabetes melli... ORPHA:99812
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Erythema Of Acral Regions
Erythema OMIM:227000
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Cutaneous Small Vessel Vasculitis
Urticaria, Erythema, Cutis marmorata, Purpura ORPHA:889
Werner Syndrome
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Prematurely aged appearance, Telangiectasia of the... ORPHA:902
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, Generalized hirsutism... ORPHA:280365
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hy... OMIM:148700
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Maculopapular Cutaneous Mastocytosis
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing ORPHA:79457
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Coffin-Siris Syndrome 8
Sparse scalp hair, Inguinal hernia, Hyperactivity, Aggressive behavior, Self-injurious behavior, ... OMIM:618362
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Redundant skin, Prematurely aged ... ORPHA:2963
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Supernumerary nipple... ORPHA:464
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Hepatitis, Skin ulce... ORPHA:1334
Erythema Nodosum, Familial
Erythema OMIM:132990
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle ORPHA:79481
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... OMIM:602032
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Flexio... OMIM:614594
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, ... ORPHA:181
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,... OMIM:606242
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Kerion Celsi
Alopecia ORPHA:499
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Stria... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis ORPHA:33577
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... ORPHA:97282
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypohidrosis, Fine hair, Dystrophic fingernails, Hyp... ORPHA:1882
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Buerger Disease
Acrocyanosis, Skin ulcer, Hyperhidrosis ORPHA:36258
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Omphalocele, Small for gestational age, Elevated circulating luteinizing hormon... OMIM:618419
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Incontinentia Pigmenti
Ridged nail, Alopecia, Scarring, Supernumerary nipple, Erythema, Nail pits, Fine hair, Hyperkerat... OMIM:308300
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ectodermal dysplasia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Apl... ORPHA:50944
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis ORPHA:455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... OMIM:262190
Autosomal Erythropoietic Protoporphyria
Erythema, Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity ORPHA:79278
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Sparse body hair ORPHA:85274
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Splenomegaly, Erythema, Prolonge... OMIM:225750
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Chronic... ORPHA:39812
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Acantholysis, Cholestasis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... OMIM:242300
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails,... ORPHA:2930
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... OMIM:226650
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... OMIM:619208
Congenital Ichthyosiform Erythroderma
Alopecia, Hypohidrosis, Palmoplantar keratoderma, Failure to thrive, Abnormality of the nail ORPHA:79394
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... ORPHA:1818
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Lack of skin elasticity, Atypical scarring of skin, Palmoplantar keratoderma, N... ORPHA:1366
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, White scaling skin OMIM:604777
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, Nai... OMIM:615934
Acute Radiation Syndrome
Hyperkeratosis, Scaling skin, Skin ulcer, Telangiectasia ORPHA:454831
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... OMIM:602400
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Psoriasiform lesion, Hepatosplenomegaly ORPHA:169154
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer, Weight loss ORPHA:767
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Erythema, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Short Syndrome
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, I... ORPHA:3163
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosensitivity ORPHA:312
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Proteasome-Associated Autoinflammatory Syndrome 1
Adipose tissue loss, Elevated circulating thyroid-stimulating hormone concentration, Flexion cont... OMIM:256040
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Erythema, Hepatic failure OMIM:177000
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism, Sparse body hair ORPHA:261483
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkled skin,... ORPHA:3051
Proteus Syndrome
Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Multiple lipomas, Lipoma OMIM:176920
Trichothiodystrophy 1, Photosensitive
Brittle hair, Small for gestational age, Trichoschisis, Flexion contracture, Absence of subcutane... OMIM:601675
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... ORPHA:2325
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair ORPHA:1810
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... OMIM:129400
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema, Flexion contracture, Decreased body weight OMIM:278760
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... OMIM:300918
Sunct Syndrome
Restlessness, Episodic hyperhidrosis, Hyperhidrosis, Facial erythema, Agitation, Flushing ORPHA:57145
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Sézary Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Palmoplantar keratoderma, Nail dystrophy, Dry skin ORPHA:3162
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Alopecia, Sparse scalp hair, Lipodyst... OMIM:248370
Aredyld
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Alopecia, Diabetes mellitus, Abnormal fingernail morpholo... ORPHA:1775
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Sparse body hai... ORPHA:2850
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Cushing Disease
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchy... ORPHA:96253
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Sparse hair, Decreased adipose tissue aroun... OMIM:606721
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Chilblain Lupus
Hyperkeratosis, Cutis marmorata, Skin ulcer ORPHA:90280
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... ORPHA:3253
Bullous Impetigo
Erythema ORPHA:36237
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, H... ORPHA:2959
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Perianal erythema, Sparse scalp ... OMIM:308205
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Enamel hypo... ORPHA:79402
Snakebite Envenomation
Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis, Hypopituitarism ORPHA:449285
Complex Regional Pain Syndrome
Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin ORPHA:83452
Hawkinsinuria
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair ORPHA:2118
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus... OMIM:170100
Familial Cold Autoinflammatory Syndrome 3
Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Hashimoto thyroiditis OMIM:614468
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Thin eyebrow ORPHA:3242
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Paronychia, Perioral erythema, Failure to thrive, Onychogryposis OMIM:614328
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Progressive flexion contractures, Skin ulcer ORPHA:2028
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... OMIM:608154
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... ORPHA:453533
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Xeroderma Pigmentosum
Conjunctival telangiectasia, Failure to thrive, Alopecia, Telangiectasia of the skin, Erythema, T... ORPHA:910
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycemia, Synophrys, Low... ORPHA:391408
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Scarring, Erythema, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Enamel hy... ORPHA:79396
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Cirrho... OMIM:614602
Immunodeficiency 58
Psoriasiform lesion, Atrophic scars, Cutaneous photosensitivity, Cold urticaria, Scaling skin, Dy... OMIM:618131
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Cutaneous photosensitivity, Psoriasiform lesion, Vasculitis in the skin ORPHA:163525
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Scaling skin, Decreased response to growth hormone ... ORPHA:79323
Omenn Syndrome
Hepatomegaly, Failure to thrive, Alopecia, Splenomegaly, Thyroiditis, Dry skin, Hypothyroidism, A... ORPHA:39041
Primary Erythromelalgia
Erythema ORPHA:90026
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... ORPHA:97280
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... ORPHA:79133
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Pili torti, Aplasia/Hypoplasia... ORPHA:202
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Skin ulcer, Weight ... ORPHA:537
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Small for gestational age, Fine hair, Recurrent hypoglycemia, Delaye... OMIM:616817
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Hyp... ORPHA:90154
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Juvenile Dermatomyositis
Alopecia, Telangiectasia of the skin, Erythema, Skin ulcer, Weight loss, Cutaneous photosensitivi... ORPHA:93672
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Skin ulcer, Weight loss, Cellulitis, Failure to thrive ORPHA:47
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Erythema, Recurrent pancrea... ORPHA:550
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Epidermal acanthosis, Adrenal hypoplasia, Erythema, Flexion contracture,... OMIM:308050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Palmoplantar keratoderma, Cirrhosis, Sparse hair, Failur... OMIM:242150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Splenomegaly, Thyroiditis, Type I diabetes mellitus, Failure to thrive, Hypo... OMIM:614700
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chr... ORPHA:294023
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... ORPHA:1883
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Flushing OMIM:259100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Facial ery... OMIM:619503
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decr... OMIM:240300
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Progeroid facial appearance, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I... ORPHA:412057
Focal Dermal Hypoplasia
Acute hepatic failure, Omphalocele, Alopecia, Inguinal hernia, Telangiectasia of the skin, Abnorm... ORPHA:2092
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Camptodactyly of finger, Erythema, Xerostomia, Skin ulcer, Palmoplant... ORPHA:2907
Fucosidosis
Hepatomegaly, Lipoatrophy, Hypothyroidism, Abnormality of the gallbladder, Vascular skin abnormal... ORPHA:349
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer OMIM:610448
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Absent eyebrow, Absent nipple, Sparse eyelashes, Sparse scalp hair, Absent eyelashes,... OMIM:614941
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Hepatomegaly, Alopecia, Failure to thrive ORPHA:50812
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Weight loss, Pallor ORPHA:507
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Bloom Syndrome
Small for gestational age, Facial erythema, Type II diabetes mellitus, Facial telangiectasia in b... OMIM:210900
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... ORPHA:99889
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... ORPHA:221008
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... ORPHA:3143
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Erythema, Pyoderma gangrenosum OMIM:608068
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema OMIM:147060
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Angioedema, Erythema, Thyroiditis, Hepatiti... ORPHA:139402
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Urticaria, Angioedema, Erythema ORPHA:100057
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Skin ulcer, Leukonychia, Pan... ORPHA:2526
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Lamellar Ichthyosis
Lack of skin elasticity, Hyperkeratosis, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/... ORPHA:313
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Limb joint contract... OMIM:612079
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Alopecia of scalp, Epidermal acanthosis, Follicular hyperkeratosis OMIM:608649
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Hypogonadism, Sparse hair, Failure to t... ORPHA:2316
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Prematurely... ORPHA:1807
Fountain Syndrome
Synophrys, Erythema, Cutis marmorata, Thick eyebrow ORPHA:3219
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Glutamine Deficiency, Congenital
Erythema, Flexion contracture, Camptodactyly OMIM:610015
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia ORPHA:100025
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Failure to thrive, Epidermal acanthosis, Splenomegaly, Thyroiditis, Palmoplantar hy... OMIM:617388
Ifap Syndrome 2
Sparse hair, Atrichia, Nail dystrophy, Perioral erythema OMIM:619016
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Inguinal hernia, Fine hair ORPHA:1174
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Skin ulcer, Weight loss ORPHA:33355
Cole Disease
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... OMIM:615522
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... ORPHA:231226
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Mycosis Fungoides
Erythema, Psoriasiform dermatitis OMIM:254400
Bacterial Toxic-Shock Syndrome
Fasciitis, Peritonitis, Hepatitis, Scaling skin, Cellulitis, Ecchymosis ORPHA:36234
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ... OMIM:614564
Takayasu Arteritis
Anorexia, Weight loss, Skin ulcer, Hyperhidrosis ORPHA:3287
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Weight loss, Dyspha... ORPHA:36426
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Flexion contracture OMIM:215100
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Palmoplantar hyperhidrosis, Short eyelashes, Pal... OMIM:150400
C1Q Deficiency 2
Vasculitis in the skin, Facial erythema OMIM:620321
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ... OMIM:614940
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Restrictive Dermopathy
Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars... ORPHA:1662
Dracunculiasis
Flexion contracture, Skin ulcer, Cellulitis ORPHA:231
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... ORPHA:293978
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at... OMIM:262000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrosis, Failure to thrive, Sparse scalp hair, Anhidrotic ectodermal dysplasia, ... OMIM:612132
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Foot joint contracture, Skin ulcer, Dysphagia, Joint contracture of t... ORPHA:220402
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Ps... ORPHA:168569
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Prominent superficial blood vessels, Cutis laxa, Thin skin, Sparse hair, Umbilic... OMIM:219150
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Skin ulcer ORPHA:834
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... ORPHA:221016
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ... ORPHA:978
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... OMIM:614929
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Dry skin, Fine hair, Sparse or absent eyelashes, Thin skin, Nail ... ORPHA:217346
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Pe... OMIM:224900
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture OMIM:203550
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Erythema, Flexion contracture, Patchy alopecia, Progr... ORPHA:90289
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal ... ORPHA:1005
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Abnormal dental enamel m... ORPHA:2273
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Erythema, Hepatitis ORPHA:829
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Dermatitis Herpetiformis
Skin vesicle, Urticaria, Erythema ORPHA:1656
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Thin skin, Skin ulcer, Purpura ORPHA:743
Microscopic Polyangiitis
Cutis marmorata, Peritonitis, Erythema, Skin ulcer, Pancreatitis, Subcutaneous hemorrhage ORPHA:727
Giant Cell Arteritis
Alopecia, Anorexia, Skin ulcer, Weight loss, Hyperhidrosis, Hepatic failure, Diabetes insipidus ORPHA:397
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:304790
Restrictive Dermopathy 1
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Adrenal hypoplasia, Epidermal ... OMIM:275210
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, ... ORPHA:140936
Ruijs-Aalfs Syndrome
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Premature graying of hair, Hy... OMIM:616200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Obesity, Low posterior ha... ORPHA:2183
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... ORPHA:69735
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... ORPHA:231214
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... ORPHA:548
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Enamel... OMIM:616029
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis, Decreased body weight OMIM:272440
Johanson-Blizzard Syndrome
Alopecia, Diabetes mellitus, Abnormal hair pattern, Abnormality of the pancreas, Failure to thriv... ORPHA:2315
Ane Syndrome
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Large for gestati... ORPHA:544488
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Acantholysis, Palmoplantar keratoderma, Sparse hair, Orthokeratosis, Fai... OMIM:615508
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow, Cutis laxa, Decreased b... OMIM:613075
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Umbilical hernia, Ectodermal dysplasia OMIM:273390
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar ... ORPHA:38
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Cutis marmorata, Splenomegaly, Skin ulcer, Abnormality of the live... ORPHA:91138
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal... OMIM:301029
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Lipoatrophy, Decrease... OMIM:614008
Dermatomyositis
Abnormal hair quantity, Telangiectasia of the skin, Erythema, Dry skin, Skin ulcer, Weight loss, ... ORPHA:221
Adams-Oliver Syndrome
Alopecia, Cutis marmorata, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic... ORPHA:974
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Jaundice, Xerostomia, Skin ulcer, Cirrhosis, Dysphagia,... ORPHA:779
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Choleli... ORPHA:848
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Erythema, Urticaria, Skin vesicle, Failure t... ORPHA:2135
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypohidrosis, Ectodermal dysplasia, Nail dystrophy, Sparse hair, Hypopituitarism, Failure to thrive ORPHA:98813
Scarf Syndrome
Inguinal hernia, Hepatocellular adenoma, Low posterior hairline, Cutis laxa, Hypoplastic nipples,... ORPHA:3134
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Erythema, Hyperhidrosis ORPHA:53715
Bazex-Dupre-Christol Syndrome
Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Alopecia, Widened atrophic scar, Diabetes mellitus, Redundant skin, Hypertriglyce... ORPHA:536532
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimul... OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:615559
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Small for gestational age, Dysphagia, Hypoglycemia OMIM:618253
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum OMIM:616576
Fg Syndrome 3
Hyperactivity, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Telangiectasia, Weight loss, Scaling skin ORPHA:420741
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Thyroiditis, Weight loss, Steatorrhea, Type I diabetes m... OMIM:212750
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Isolated Agammaglobulinemia
Failure to thrive, Skin ulcer, Cellulitis ORPHA:229717
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... OMIM:269200
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia, Hypohidrosis ORPHA:884
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Synophrys, Achilles tendon contracture, Sparse hair, Thick eyebrow OMIM:611091
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis, Sparse scalp hair, Hyperactivity, Poor wound healing, Corneal scarring, Acral ulcerat... OMIM:256800
Rheumatic Fever
Erythema, Pallor, Anorexia ORPHA:3099
Cardiofaciocutaneous Syndrome
Brittle hair, Failure to thrive in infancy, Redundant skin, Slow-growing hair, Abnormal eyelash m... ORPHA:1340
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Thick hair, Abnormal subcuta... ORPHA:357074
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... OMIM:305100
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Attention deficit hyperactivity disorder, Spars... ORPHA:284180
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:3474
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline... ORPHA:73272
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... OMIM:607823
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... ORPHA:3453
Immunoglobulin A Vasculitis
Anorexia, Orchitis, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascula... ORPHA:761
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cutis marmorata, Portal hypertension, Splenomegaly, ... OMIM:615688
Infantile Myofibromatosis
Neoplasm of the pancreas, Chondrocalcinosis, Abnormal hair morphology, Skin ulcer ORPHA:2591
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc... ORPHA:79151
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Prominent superficial veins, Flexion contracture, Elbow flexion contracture, Fin... OMIM:614438
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism, Red hair, Fair hair OMIM:614613
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Webbed neck, Sparse hair, Dry ... OMIM:619745
2Q32Q33 Microdeletion Syndrome
Sparse hair, Attention deficit hyperactivity disorder, Aggressive behavior, Fine hair ORPHA:251019
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Alopecia, Fasciitis, Anorexia, Poor wound healing, Erythema, Flexi... ORPHA:99921
Corneodermatoosseous Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Palmoplantar keratod... ORPHA:3194
Subcorneal Pustular Dermatosis
Hyperthyroidism, Erythema, Hypothyroidism ORPHA:48377
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Psoriasif... ORPHA:37042
Bone Marrow Failure Syndrome 3
Hyperactivity, Pancreatic steatosis, Amelogenesis imperfecta, Hyperkeratosis, Nail dystrophy, Sma... OMIM:617052
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop... OMIM:615225
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f... ORPHA:257
Livedoid Vasculopathy
Diabetes mellitus, Cutis marmorata, Telangiectasia of the skin, Poor wound healing, Graves diseas... ORPHA:542643
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Nail dystrophy, Atrichia, Acrocyanosis ORPHA:1867
Hypomelanosis Of Ito
Alopecia OMIM:300337
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Prominent superficial veins, Lipoatrophy, Prematurely aged appeara... OMIM:601812
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Self-injurious behavior, Alopecia, Decreased response to growth hormone stimulatio... OMIM:601853
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive, Flexion contracture, Dysphagia OMIM:620001
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Alopecia, Isosexual precocious puberty,... ORPHA:90795
Rat-Bite Fever
Pancreatitis, Scaling skin, Parotitis, Weight loss ORPHA:31205
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Camptodactyly ORPHA:88630
Adams-Oliver Syndrome 2
Alopecia, Cutis marmorata, Low anterior hairline, Small nail OMIM:614219
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Fine ... OMIM:618891
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Synophrys, Low posterior hairline, Compulsive behaviors, Thin eyebrow, Spars... OMIM:619320
Papa Syndrome
Type I diabetes mellitus, Skin ulcer ORPHA:69126
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Cellulitis OMIM:614878
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Monosomy 18P
Webbed neck, Alopecia, Hypothyroidism, Low posterior hairline ORPHA:1598
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Anorexia, Splenomegaly, Erythema, Weight l... ORPHA:50918
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Epidermal acanthosis, Long eyelashes OMIM:616069
Scorpion Envenomation
Restlessness, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:466677
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Hypohidrosis OMIM:615023
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Hepatosplenomegaly, Ce... OMIM:604416
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Tongue thrusting, ... OMIM:115150
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Dry skin,... OMIM:613026
Immunodeficiency 23
Failure to thrive, Erythema, Vasculitis in the skin OMIM:615816
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cutaneous photosensitivity, Small for gestational age, Camptodactyly of finger OMIM:610756
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Low posterior hairline, Self-injurious behavior, Compulsive behaviors,... OMIM:613174
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Hyperactivity, Large for gestational age, Hyperke... OMIM:607721
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Camptodactyly of finger, Erythema, Flexion contracture, Atypic... ORPHA:2908
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy ORPHA:2301
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Flexion contracture, Small nail OMIM:617396
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... OMIM:620075
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Camptodactyly of finger, Skin ulcer, Urticaria, Abnormality of the ad... ORPHA:2176
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, A... ORPHA:363618
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Anhidrosis, Skin ulcer OMIM:613640
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Flexion contracture, Corneal scarring, Hyperhidrosis OMIM:614653
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Dry skin OMIM:618282
Ollier Disease
Precocious puberty, Skin ulcer ORPHA:296
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Tempi Syndrome
Hypoxemia, Telangiectasia, Facial erythema ORPHA:284227
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur... OMIM:616364
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Paronychia, Skin ulcer, Cellulitis, Skin vesicle, Generalized abnormali... ORPHA:2314
Interstitial Granulomatous Dermatitis With Arthritis
Erythema ORPHA:79099
Joubert Syndrome 37
Sparse hair, Hepatomegaly, Obesity OMIM:619185
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Vomiting, Diarrhea OMIM:615863
Kury-Isidor Syndrome
Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis OMIM:619762
Gapo Syndrome
Hepatomegaly, Alopecia, Prominent scalp veins, Sparse eyelashes, Redundant skin, Sparse eyebrow, ... OMIM:230740
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal hair whorl, Plantar... ORPHA:2872
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Xerostomia, Nail dystrophy, Nail dysplasia OMIM:175500
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hype... ORPHA:79501
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Central diabetes insipidus, Reduced circulati... ORPHA:91355
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Holocarboxylase Synthetase Deficiency
Alopecia, Anorexia, Weight loss ORPHA:79242
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Progeroid facial appearance, Prominent veins on trunk, Cutis laxa... ORPHA:2962
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... OMIM:268400
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Sparse... ORPHA:436252
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... OMIM:256810
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer ORPHA:79493
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... ORPHA:1515
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Dermatoosteolysis, Kirghizian Type
Dystrophic toenail, Dystrophic fingernails, Abnormality of the nail, Skin ulcer ORPHA:1657
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Down Syndrome
Prematurely aged appearance, Obesity, Type II diabetes mellitus, Sparse hair, Umbilical hernia, H... ORPHA:870
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... ORPHA:75389
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Salt craving, Adrenal hypo... ORPHA:95409
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Generalized hirsutism, Palm... ORPHA:678
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ... OMIM:261990
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Aggressive behavior OMIM:618321
Mednik Syndrome
Cirrhosis, Erythema, Hepatic fibrosis, Cholestasis OMIM:609313
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia... ORPHA:2232
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, ... OMIM:252930
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Flexion contracture, Digital ulcer, Hypohidrosis, Telangiectas... ORPHA:90291
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Agitation OMIM:618840
Adrenoleukodystrophy
Hypogonadism, Alopecia, Primary adrenal insufficiency, Attention deficit hyperactivity disorder OMIM:300100
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Nail dystrophy, Nail dysplasia, ... OMIM:226600
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin OMIM:618527
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Hypothyroidism, Progeroid facial appearance OMIM:617763
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Failure to thrive, Small for gesta... OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis, Acral ulceration OMIM:613115
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy OMIM:616353
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Calciphylaxis
Cutis marmorata, Secondary hyperparathyroidism, Skin ulcer, Cellulitis ORPHA:280062
Leigh Syndrome
Alopecia, Multiple joint contractures, Hypoglycemia, Dysphagia, Hepatic failure, Frontal hirsutis... ORPHA:506
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Webbed neck, Sparse hair OMIM:613224
Desbuquois Syndrome
Sparse hair, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Adrena... ORPHA:85138
Warburg-Cinotti Syndrome
Ankle flexion contracture, Poor wound healing, Erythema, Elbow flexion contracture, Thin skin, Fo... OMIM:618175
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Anorex... ORPHA:199299
Fusariosis
Fasciitis, Abnormality of the spleen, Peritonitis, Paronychia, Skin ulcer, Abnormality of the liv... ORPHA:228119
Agel Amyloidosis
Xerostomia, Cutis laxa, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Dry skin, Dermat... ORPHA:85448
Parkes Weber Syndrome
Prominent superficial blood vessels, Scaling skin, Skin ulcer ORPHA:90307
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Mixed Connective Tissue Disease
Hepatomegaly, Alopecia, Splenomegaly, Xerostomia, Purpura ORPHA:809
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Cutis laxa, Fine hair, Ectodermal dysplasia, Cirrhosis, Sparse hair, Dry ... OMIM:614099
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Spontaneous h... ORPHA:565
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Failure to thrive, Dry hair, Hip c... OMIM:216400
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Brittle hair, Small for gestational age, Curly hair, Splenomegal... OMIM:222470
Acquired Purpura Fulminans
Acrocyanosis, Hepatic failure, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Hig... OMIM:280000
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Thin nail, Aggressive behavior, Bruxism, Sparse hair, Dry ... OMIM:617799
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Ectodermal dysplasia,... OMIM:106260
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Glass Syndrome
Restlessness, Inguinal hernia, Hyperactivity, Aggressive behavior, Long eyelashes, Thin skin, Nai... OMIM:612313
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Biliary cirrhosis, Anter... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuffic... ORPHA:227982
Even-Plus Syndrome
Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... OMIM:158310
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Atrophic scars, Decreased body weight, Sparse hair, Joint contracture, Dermal translu... OMIM:615349
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Scarf Syndrome
Inguinal hernia, Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, ... OMIM:312830
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Hypoglycemia OMIM:210210
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appeara... OMIM:264090
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Elevated circulating parathyroid hormone level OMIM:600785
Relapsing Polychondritis
Alopecia, Erythema, Hepatitis, Purpura ORPHA:728
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Sparse hair, Hypothyroidism OMIM:616541
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Aggressive behavior, Sparse medial ... OMIM:601358
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity, Hypogonadism, Sparse hair, Camptodactyly of toe, Thick eyebrow ORPHA:127
Behcet Syndrome
Erythema, Patchy alopecia OMIM:109650
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer ORPHA:424019
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Ectodermal dysplasia, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Orchitis, Splenomegaly, Peritonitis, Erythema, Cellulitis, Bruising susceptibility ORPHA:32960
Fanconi Anemia, Complementation Group S
Sparse hair, Failure to thrive, Low anterior hairline, Long eyelashes OMIM:617883
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Epidermal acanthosis, Failure to thrive in infancy, Splenomegaly, Hyperkeratosis OMIM:612852
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Synophrys, Hirsutism, Contractur... OMIM:615485
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail OMIM:619721
Hajdu-Cheney Syndrome
Hepatomegaly, Failure to thrive, Inguinal hernia, Abnormal fingernail morphology, Splenomegaly, S... ORPHA:955
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding, Hypogonad... ORPHA:2067
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Alopecia tota... ORPHA:740
Mogs-Cdg
Hepatomegaly, Alopecia, Hepatosplenomegaly, Long eyelashes, Inappropriate antidiuretic hormone se... ORPHA:79330
Meige Disease
Atypical scarring of skin, Cobblestone-like hyperkeratosis, Skin ulcer, Cellulitis ORPHA:90186
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Aggressive behavior, Flexion contracture, Patchy alopecia, Decreased... OMIM:300534
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hepatic fibrosis, Hepatic ste... ORPHA:99413
Mosaic Monosomy X
Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hepatic fibrosis, Hepatic ste... ORPHA:99228
Monosomy X
Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hepatic fibrosis, Hepatic ste... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hepatic fibrosis, Hepatic ste... ORPHA:881
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Hypogonadism, Fine hair ORPHA:228390
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Hepatic necrosis, Nail pits, Premature graying of hair, Nail dystrophy, Ci... OMIM:127550
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin OMIM:613990
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Episodic hyperhidrosis, Paronychia, Anhidrosis, Acral ulceration OMIM:201300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Thin s... OMIM:617506
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Abnormality of the endocrine system, Absent eyelashes,... ORPHA:166035
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis OMIM:617443
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... ORPHA:1071
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thi... OMIM:612199
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Hypoplasia of the thymus, Failure to thrive OMIM:603554
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Hirsutism, Stereotypical hand wringing, Long eyelashes, Sparse hair, Failure... OMIM:212066
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Progeroid facial appearance, S... OMIM:619127
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... OMIM:263700
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal dental enam... ORPHA:2710
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Enamel hypoplasia,... OMIM:277440
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Small for gestational age, Sparse eyelashes, Alopecia totalis, Abnormal d... ORPHA:2909
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Sparse eyebrow, Hypohidrosis, Bilateral breast ... ORPHA:69085
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Camptodactyly of finger, Aggressive behavior ORPHA:85279
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Nail pits, Enthesitis, Onycholysis ORPHA:85436
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Small nail, Nail dysplasia, Sparse hair, Failure to... OMIM:614813
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Failure to thrive, Patchy alopecia OMIM:615387
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Hallermann-Streiff Syndrome
Sparse scalp hair, Hyperactivity, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Fi... OMIM:234100
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology ORPHA:93160
Bresek Syndrome
Alopecia ORPHA:85284
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615022
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Xerostomia, Skin ulcer, Dysphagia ORPHA:220393
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Enamel hypoplasia, Camptodactyly OMIM:619980
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Dysphagia, Knee flexion contracture, Hyperhidrosis, Thin skin, Camptod... OMIM:601559
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Redundant skin, Abnormal hair pattern, Camptodactyly of finger, Abse... ORPHA:920
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Scarring ORPHA:398189
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Inguinal hernia, Cutis marmorata, Anterior pituitary hypoplasia, Elbow fle... OMIM:151050
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Hypohidrosis, Fine hair, Sparse hair OMIM:613451
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Hypohidrosis, Fine hair, Multiple lipomas, Cutaneous pho... OMIM:181270
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Fair hair, Hypogonadotropic hypogonadism, Decreased response ... OMIM:129900
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Abnor... ORPHA:534
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Cutis laxa, Fine hair, Truncal obesity, Sparse hair, Failure to thriv... OMIM:222700
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Abnormal dental enamel morphology, Pancrea... ORPHA:2750
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat OMIM:176670
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Familial Mediterranean Fever
Acute hepatic failure, Orchitis, Splenomegaly, Peritonitis, Erythema, Pancreatitis ORPHA:342
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Fine hair, Cutis laxa, Camptodactyly, Sparse hair, Um... OMIM:277590
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia ORPHA:1647
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,... ORPHA:3455
Blau Syndrome
Camptodactyly of finger, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Abnormality of the liver... ORPHA:90340
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... ORPHA:273
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia, Failure to thrive OMIM:620040
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Splenomegaly, Skin ulcer, Cutaneous photosensitivity ORPHA:379
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Slender build, Decreased response to growth hormone stimulation test, Small for gestati... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Slender build, Decreased response to growth hormone stimulation test, Small for gestati... ORPHA:363958
Sympathetic Ophthalmia
Alopecia, Erythema, Poliosis ORPHA:79098
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Pyoderma gangrenosum OMIM:150550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Keutel Syndrome
Alopecia ORPHA:85202
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Fine hair OMIM:268320
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Skin ulcer ORPHA:48104
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Alopecia totalis OMIM:618775
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Facial wrinkling, Fine hair, Frontal upsweep of hai... OMIM:305450
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal eyelash morphology, ... ORPHA:2556
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Absence of secondary sex c... ORPHA:432
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Skin ulcer ORPHA:352723
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Abdominal situs inversus... ORPHA:2108
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Encephalocraniocutaneous Lipomatosis
Lipoma, Alopecia, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... OMIM:263650
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia ... ORPHA:3130
Monosomy 22
Aplasia of the thymus, Synophrys, Hepatosplenomegaly, Hyperhidrosis, Contractures of the large jo... ORPHA:96123
Kawasaki Disease
Abnormality of nail color, Jaundice, Hepatitis, Cholecystitis, Palmoplantar erythema ORPHA:2331
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair OMIM:118650
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Frontal balding, Synophrys, Truncal obesity, Self-injurious behavior, Long... OMIM:612474
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Chikungunya
Erythema, Enthesitis, Skin vesicle, Cutaneous photosensitivity, Petechiae ORPHA:324625
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Thin skin, Hypocholesterolemia, Sparse hair, Failure to thrive OMIM:244450
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis ORPHA:560
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sparse axillary h... ORPHA:90796
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Spar... OMIM:613610
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive OMIM:302960
Hawkinsinuria
Sparse hair, Restlessness, Failure to thrive OMIM:140350
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Urachal Cyst
Peritonitis, Erythema ORPHA:488
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Hypohidrosis, Breast aplasia, Sparse hair, Type I diabetes mellitus ORPHA:2036
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Sparse eyelashes, Adipose tissue loss, Paronychia, ... ORPHA:125
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Fine hair, Sparse hair, Polyphagia, Self-mutilation ORPHA:251028
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Alopecia OMIM:253260
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Poor wound healing, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenome... ORPHA:2072
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sp... OMIM:611174
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Low posterior hairline, Fine hair, Webbe... OMIM:613563
Autosomal Dominant Hypocalcemia
Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Costello Syndrome
Deep-set nails, Curly hair, Redundant neck skin, Hypoglycemia, Thin nail, Concave nail, Achilles ... OMIM:218040
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Thin nail, Malformation of the hepatic ductal p... OMIM:218330
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Progeroid facial appearance, Absence of ... OMIM:614098
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Hyperhidrosis, Premature... OMIM:305000
Trichotillomania
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum, Cellulitis ORPHA:486
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia OMIM:163200
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Hepatic fibrosis, Sparse hair, Enamel hypoplasia, Hepatic c... OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Failure to thrive, Epidermal acanthosis, Inguinal hernia, Biliary hy... ORPHA:83617
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Sparse hair, Hypothyroidism, Decreased response to growth hormone stim... OMIM:614114
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple... OMIM:200110
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Chronic Actinic Dermatitis
Cutaneous photosensitivity, Epidermal acanthosis ORPHA:330064
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Trichiasis, Acantholysis, Anorexia, Oral-pharyngeal dysphagia, Xer... ORPHA:95455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Absence of subcutaneous fat... OMIM:620005
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Acral ulceration OMIM:608654
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypoplasia, Amelog... OMIM:245660
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Simple Cryoglobulinemia
Viral hepatitis, Weight loss, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura ORPHA:91139
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Catastrophic Antiphospholipid Syndrome
Cutis marmorata, Skin ulcer ORPHA:464343
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Sparse eyebrow, Splenomegaly, Camptodactyly, Sparse ... OMIM:252500
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Inguinal hernia OMIM:616449
Pgm3-Cdg
Failure to thrive, Vasculitis in the skin, Skin ulcer ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Oral-pharyngeal dysphagia, Synophrys, Attention deficit hyperactivity disorder, Sparse hair, Toen... OMIM:300966
Granulomatosis With Polyangiitis
Prostatitis, Skin ulcer, Weight loss, Abnormality of the hypothalamus-pituitary axis, Diabetes in... ORPHA:900
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Distal Deletion 19P
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow ORPHA:96129
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive ORPHA:444072
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactiv... OMIM:619934
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Sparse body hair ORPHA:3068
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, ... OMIM:602535
Primary Sjögren Syndrome
Chronic active hepatitis, Cutis marmorata, Xerostomia, Thyroiditis, Skin ulcer, Biliary cirrhosis... ORPHA:289390
African Trypanosomiasis
Hepatomegaly, Alopecia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... ORPHA:3385
Primrose Syndrome
Synophrys, Flexion contracture, Knee flexion contracture, Glucose intolerance, Tics, Abnormal rep... OMIM:259050
Sweet Syndrome
Skin vesicle, Panniculitis, Pyoderma gangrenosum ORPHA:3243
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Sparse hair, Failure to thrive ORPHA:175
Baller-Gerold Syndrome
Erythema, Anomalous splenoportal venous system OMIM:218600
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Excessive skin wrinkling on dorsum of hands and fingers, Prominen... ORPHA:2834
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Wiskott-Aldrich Syndrome
Skin ulcer, Urticaria, Spontaneous hematomas, Hypoplasia of the thymus, Bruising susceptibility, ... ORPHA:906
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss OMIM:608710
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Sarcoidosis
Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Abnor... ORPHA:797
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy ORPHA:2396
Autosomal Recessive Robinow Syndrome
Alopecia, Inguinal hernia, Camptodactyly of finger, Long eyelashes, Fingernail dysplasia, Umbilic... ORPHA:1507
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sparse hair OMIM:272950
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Fragile skin, Anonychia, Nail dystrophy, Enamel hypoplasia, Failure to thri... ORPHA:79404
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Inguinal hernia, Redundant skin in infancy, Hyperhidrosis, Hypohidrosis, Cutis... OMIM:150230
Autosomal Dominant Robinow Syndrome
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Long eyelash... ORPHA:3107
Wrinkly Skin Syndrome
Inguinal hernia, Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin ... OMIM:278250
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ... OMIM:164200
Phakomatosis Pigmentokeratotica
Precocious puberty, Patchy alopecia, Pheochromocytoma, Hyperhidrosis ORPHA:2874
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hypoplastic nipp... OMIM:620186
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Aplasia of the right hem... OMIM:619841
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormality of the adrenal glands, Skin ulcer ORPHA:68
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, Failure t... OMIM:617157
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands OMIM:300291
Biotinidase Deficiency
Alopecia ORPHA:79241
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Small for gestational age OMIM:300661
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Alopecia, In... OMIM:619472
Colchicine Poisoning
Alopecia ORPHA:31824
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Vascular Ehlers-Danlos Syndrome
Alopecia, Inguinal hernia, Prematurely aged appearance, Redundant skin, Telangiectasia of the ski... ORPHA:286
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Myhre Syndrome
Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow OMIM:139210
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... OMIM:305600
Leukocyte Adhesion Deficiency, Type I
Poor wound healing, Skin ulcer OMIM:116920
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Loss of eyelashes, Abnormal circulating calcium-phosphate regulating hormone concentrat... ORPHA:2636
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer ORPHA:424016
Malakoplakia
Orchitis, Skin ulcer ORPHA:556
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Adams-Oliver Syndrome 1
Alopecia, Cutis marmorata, Supernumerary nipple, Small nail OMIM:100300
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Plague
Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Dry skin ORPHA:707
Pallister-Killian Syndrome
Omphalocele, Anhidrosis, Sparse scalp hair, Alopecia, Sparse eyelashes, Inguinal hernia, Supernum... OMIM:601803
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Precocious puberty, Nail dysplasia, Sparse hair, Abnormal repetitive mannerisms OMIM:616682
Neurocardiofaciodigital Syndrome
Sparse hair, Failure to thrive, Small for gestational age, Sparse eyebrow OMIM:619869
Blau Syndrome
Flexion contracture of toe, Camptodactyly of finger, Skin ulcer OMIM:186580
Systemic Lupus Erythematosus
Alopecia, Cutaneous photosensitivity ORPHA:536
Roberts Syndrome
Sparse hair, Wrist flexion contracture, Progressive flexion contractures, Knee flexion contracture ORPHA:3103
Split Cord Malformation
Tufted hairs, Penetrating foot ulcers, Lipoma, Hypertrichosis ORPHA:573278
Renpenning Syndrome 1
Brittle hair, Camptodactyly, Sparse hair, Joint contracture of the hand, Sparse lateral eyebrow OMIM:309500
Leukocyte Adhesion Deficiency
Peritonitis, Pyoderma gangrenosum, Nail dystrophy, Hyperinsulinemic hypoglycemia ORPHA:2968
Menke-Hennekam Syndrome 1
Inguinal hernia, Flexion contracture, Long eyelashes, Sparse hair, Umbilical hernia, Thick eyebrow OMIM:618332
Branchiooculofacial Syndrome
Supernumerary nipple, Elbow flexion contracture, Low posterior hairline, Premature graying of hai... OMIM:113620
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Biliary tract abnormality, Elbow flexion contracture... OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dgat1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dgat1.

No publications found that use IMPC mice or data for Dgat1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dgat1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dgat1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dgat1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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