Gene Summary

collagen, type XVII, alpha 1
BPAg2,  Bpag2,  Bpag,  BP180

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased freezing behavior Col17a1em1(IMPC)Mbp HOM Early adult 5.71×10-05
decreased circulating serum albumin level Col17a1em1(IMPC)Mbp HOM Early adult 4.49×10-05
abnormal skin morphology Col17a1em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Col17a1em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating calcium level Col17a1em1(IMPC)Mbp HOM Early adult 3.72×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Col17a1 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 Col17a1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... ORPHA:79402
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... ORPHA:251393
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Anonychia, Nail dystrophy ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Scarring alopecia of scalp, Nail dystrophy, Macular hyperpigmented dermop... OMIM:619787
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca ORPHA:293381
Epithelial Recurrent Erosion Dystrophy

The table below shows human diseases predicted to be associated to Col17a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Iga Pemphigus
Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,... ORPHA:555905
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Abnormal hair morp... ORPHA:218
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Increased circulating antibody level ORPHA:90000
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Atypical scarring of skin, Keloids, Erythematous papule, Localized skin le... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq... ORPHA:64745
Dystrophic Epidermolysis Bullosa Pruriginosa
Papule, Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, A... ORPHA:89843
Dowling-Degos Disease
Hyperkeratotic papule, Inguinal freckling, Palmar pits, Erythematous papule, Acne inversa, Hyperm... ORPHA:79145
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Skin vesicle, Sparse axillary ha... OMIM:613102
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Rheuma... ORPHA:90280
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev... ORPHA:90368
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Generalized Eruptive Histiocytosis
Erythematous papule, Spotty hyperpigmentation, Hypereosinophilia, Maculopapular exanthema, Leukem... ORPHA:157991
Peeling Skin Syndrome 1
Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Scaling... OMIM:270300
Papular Xanthoma
Skin plaque, Eruptive xanthomas, Histiocytosis ORPHA:158008
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Papule, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Osteomyelitis, Increased cir... ORPHA:2314
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Hypopigmentation of the skin, Dystrophic toenail, Nevus, Abnormal fingernail morpho... ORPHA:89838
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic derm... ORPHA:293173
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-... ORPHA:169154
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Myeloid leukemia,... ORPHA:48104
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular... ORPHA:737
Pemphigus Foliaceus
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Autoimmunity, Crusting eryt... ORPHA:79481
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi... OMIM:256500
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Chronic mucocutaneous candi... ORPHA:98813
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Classic Mycosis Fungoides
Erythema, Alopecia, Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patche... ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc... OMIM:601859
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat... ORPHA:158681
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Indurated nodule, Granuloma, Skin ulcer, Skin nod... ORPHA:542592
Lichen Planus Pemphigoides
Abnormality of the nail, Skin vesicle, Hypopigmented streaks, Conjunctivitis, Pruritus, Hyperkera... ORPHA:254478
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Papule, Skin ulcer ORPHA:2337
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Dry skin, Abnormal lymphocyte morphology, Autoimmunity, Leuk... ORPHA:39041
Lupus Erythematosus Tumidus
Urticarial plaque, Anti-dsDNA antibody positivity, Erythematous plaque, Antinuclear antibody posi... ORPHA:90283
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Hypermelanotic macule OMIM:154800
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Systemic lupus erythematosus, Orthokeratotic hyperke... ORPHA:498359
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Subcutaneous nodule, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse axillary hair, Perifollicular hyperkeratosis, Sparse scalp hair ORPHA:505
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Papule, Spotty hyperpigmentation, Hypermelanotic macule, Plantar hyperkeratosis, Milia, Nail dyst... ORPHA:79399
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp... ORPHA:634
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Subcutaneous nodule, Recurrent skin infections ORPHA:345
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Lack ... ORPHA:277
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... ORPHA:3243
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... OMIM:614470
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Pr... OMIM:618625
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dry skin, Dermal atrophy, Fac... ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... OMIM:616871
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur... ORPHA:486
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti-glutamic acid d... OMIM:304790
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Microcytic anemia, Autoimmunity, Skin vesicle, Macule, Pruritus ORPHA:1656
Benign Cephalic Histiocytosis
Papule, Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Molluscum contagiosum, Recurrent otitis media, Hepatosplenomegaly, I... OMIM:618982
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Immunodeficiency 7
Recurrent otitis media, Vitiligo, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemol... OMIM:615387
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Spotty hyperpig... ORPHA:79147
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Acquired Ichthyosis
Erythema, Papule, Palmoplantar keratoderma, Dry skin, Autoimmunity, Recurrent skin infections, Ic... ORPHA:454
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Decreased specific an... OMIM:606367
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, B... ORPHA:217390
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Antin... OMIM:617388
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Dermal atrophy, Hyperconvex fingernails, Aplasia/Hypoplasia of ... ORPHA:257
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:31112
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Moynahan Syndrome
Alopecia, Hypogonadism, Short stature, Sparse hair, Hyperkeratosis ORPHA:2574
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Eosinophilia, Skin nodule, Conjunctivitis ORPHA:26137
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... ORPHA:79402
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype... OMIM:144200
Ichthyosis-Prematurity Syndrome
Eosinophilia, Ichthyosis ORPHA:88621
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis, Thickened skin ORPHA:2582
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Aggressive behavior, Patchy alopecia, Skin plaque, Papule, Hyperker... OMIM:247100
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Erythrokeratodermia Variabilis
Erythema, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Dry skin, Patchy palmo... ORPHA:317
Acne Inversa, Familial, 3
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper... ORPHA:79503
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hyperkeratosis-Hyperpigmentation Syndrome
Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hyperkeratosis ORPHA:1336
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar... OMIM:604379
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, ... OMIM:620603
Dyskeratosis Congenita
Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Al... ORPHA:1775
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... OMIM:617241
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 23
Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid... OMIM:615816
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... ORPHA:79133
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Thickened skin, Irregular hyperpigmentation, Erythema, Papule, Generaliz... ORPHA:2135
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Chilblain Lupus 1
Antinuclear antibody positivity, Abnormality of the nail, Skin ulcer, Chilblains OMIM:610448
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl... OMIM:308300
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, A... ORPHA:1809
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... OMIM:158000
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Autoimmu... OMIM:616576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Increased circulating IgE level, Psori... OMIM:615508
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit... OMIM:607624
Porphyria Variegata
Thickened skin, Localized skin lesion, Hypopigmentation of the skin, Skin erosion, Hypertrichosis... ORPHA:79473
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Lichen Planopilaris
Papule, Alopecia, Hypopigmented skin patches, Hepatitis, Skin ulcer, Abnormal fingernail morpholo... ORPHA:525
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Pustule, Papule OMIM:616069
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Dermal atrophy, Anti-dsDNA antibody positiv... ORPHA:163525
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Hirsu... OMIM:617237
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis, Abnormality of skin pigmentation ORPHA:315
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Paronychia, Perioral erythema, Increased circulating IgE level, Pustule, Eryth... OMIM:614328
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker... ORPHA:2251
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl... OMIM:618535
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp... ORPHA:353298
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hypopigmented skin patches, Hepatitis, Conjunctivitis, Skin ulcer,... ORPHA:47
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Aca... ORPHA:166113
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Macule, Arthritis, Subcutaneou... ORPHA:3165
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Erythematous papule, Panhypogamm... OMIM:602450
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Diarrhea 13
Hypoalbuminemia OMIM:620357
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Milia, Nail dystrop... ORPHA:79397
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse ... ORPHA:2890
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Hepatosplenomegaly, Decreased circulating antibody level, Interstitial pne... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity ORPHA:2902
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebr... ORPHA:1818
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Otitis media, Inf... ORPHA:229717
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Rheumatoid factor positive, Lymphopenia, Leukopenia, Malar rash, Skin ra... OMIM:615934
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Immunodeficiency 88
Eosinophilia OMIM:619630
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia... OMIM:603554
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair, Growth de... ORPHA:2985
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess form... ORPHA:231
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Erosive Pustular Dermatosis Of The Scalp
Erythema, Skin erosion, Abnormal hair morphology, Pustule, Scarring alopecia of scalp ORPHA:222
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Reticular Dysgenesis
Skin ulcer, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decreased circulating anti... ORPHA:33355
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Kondoh Syndrome
Intrauterine growth retardation, Thick eyebrow, Short stature, Sparse hair, Widow's peak OMIM:606242
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosin... ORPHA:139402
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ... ORPHA:2897
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Skin ulcer, Neutropenia OMIM:620443
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Incontinentia Pigmenti
Erythema, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal to... ORPHA:464
Systemic Lupus Erythematosus 17
Alopecia, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopen... OMIM:301080
Toenail dysplasia, Sparse body hair, Dry skin, Melanocytic nevus, Fingernail dysplasia, Trichodys... ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil... OMIM:618531
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal to... ORPHA:494
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Prolidase Deficiency
Erythema, Papule, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin,... ORPHA:742
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial... ORPHA:87503
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Hypertrichosis, Microcytic anemia, Dry skin, Ichthyosis, Cutis laxa, Dysph... OMIM:612379
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Long eyelashes, Hypogonadotropic hypogonadism, Delayed puberty, L... OMIM:275400
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Hereditary Folate Malabsorption
Pancytopenia, Decreased circulating antibody level, Pallor, Eosinophilia, Megaloblastic anemia, T... ORPHA:90045
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocy... OMIM:619644
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia, Uveitis OMIM:607115
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly, Erythematous plaque ORPHA:86884
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Erythroderma, Palmoplantar h... ORPHA:100976
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ichthyosis, Annular Epidermolytic, 1
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou... OMIM:607602
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:36913
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... OMIM:616651
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Milia, Sparse or absent eyelashes, Pili torti,... ORPHA:113
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P... ORPHA:313
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Skin ulcer, Leukopenia, Pancytopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Skin ... ORPHA:507
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri... OMIM:615821
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Autoimmunity, Skin rash, Increased inflammatory response, Myositis, E... ORPHA:183
Dry skin, Trichodysplasia, Nail dysplasia, Thin skin OMIM:125640
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Systemic lupus erythematosus, Facial hirs... OMIM:170100
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela... OMIM:602400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Hypercalcemia ORPHA:55881
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ... OMIM:619208
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circ... OMIM:620565
Pneumonia, Localized skin lesion, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Syndromic X-Linked Intellectual Disability 7
Short stature, Hypogonadism, Sparse body hair ORPHA:85274
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Long eyelashes, Leukoc... ORPHA:99843
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... OMIM:620321
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Parakeratosis, Oligoart... OMIM:614204
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Palmoplantar hyperke... OMIM:604536
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy... ORPHA:79153
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... OMIM:242300
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Aplasia/Hypoplasia... ORPHA:202
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Skin ulcer, Lymphopenia, Derm... ORPHA:454831
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... ORPHA:312
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Thickened skin, Hyperkeratosis ORPHA:1659
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, R... OMIM:301000
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Coarse hair, Acne inversa, Eczematoid dermatitis, Nevus, Trichorrhexis nodosa,... OMIM:301845
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Pyoderma gangrenos... OMIM:150550
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibo... ORPHA:90159
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy... ORPHA:38
Fair hair, Eczematoid dermatitis, Dry skin, Self-mutilation, Scleroderma, Aggressive behavior, At... OMIM:261600
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar... OMIM:308800
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Erythematous plaque, Splenomegaly, Skin rash, Parakera... ORPHA:398124
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Flynn-Aird Syndrome
Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Anemia, Dysphagia ORPHA:2070
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Decreased circulating IgE, Impaired memory B cell generation, He... OMIM:308230
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er... OMIM:617526
Acral Peeling Skin Syndrome
Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Hy... ORPHA:263534
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Lipoid Proteinosis
Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis, Dysphagia, Subcutaneous nodule, Papul... ORPHA:530
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ... OMIM:604173
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Morphea, Scleroderm... ORPHA:90158
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Pyoderma gangrenosum, Sterile abscess, Throm... OMIM:604416
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial... OMIM:603165
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Xq27.3Q28 Duplication Syndrome
Short stature, Intrauterine growth retardation, Hypogonadism, Sparse body hair ORPHA:261483
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:619220
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... OMIM:301082
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Chronic Graft Versus Host Disease
Thickened skin, Alopecia, Erythema, Skin ulcer, Urinary bladder inflammation, Fasciitis, Anorexia... ORPHA:99921
Livedoid Vasculopathy
Hyperpigmented streaks, Abnormality of complement system, Erythematous papule, Polycythemia, Skin... ORPHA:542643
Indurated nodule, Urticarial plaque, Abnormality of the spleen, Morbilliform rash, Abscess, Eryth... ORPHA:228123
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Schnitzler Syndrome
Papule, Leukocytosis, Skin rash, Splenomegaly, Macule, Arthritis, Anemia, Pruritus, Increased cir... ORPHA:37748
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy OMIM:618999
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion, Ridged nail, Parakeratosi... ORPHA:83453
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... OMIM:616216
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte mo... ORPHA:3162
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplant... ORPHA:79151
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Coffin-Siris Syndrome 8
Self-injurious behavior, Eczematoid dermatitis, Hypertrichosis, Long eyelashes, Thick eyebrow, Ag... OMIM:618362
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin ORPHA:1810
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Comedo, Ridged nail, Sparse eyelashes, Sparse a... OMIM:278150
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Hypogonadism, Long eyelashes, Sparse hair, Growth delay ORPHA:3363
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia, Hypergonadotropic hypogonadism OMIM:606407
Papillon-Lefèvre Syndrome
Abnormality of the nail, Palmoplantar keratoderma, Hypopigmented skin patches, Periodontitis, Spa... ORPHA:678
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Depigmentation/hyperpigmentation of skin, Erythema, Skin rash, Maculopapular exanthema, Infectiou... ORPHA:324625
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... ORPHA:251393
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta... ORPHA:2199
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Sjögren-Larsson Syndrome
Erythema, Dry skin, Generalized hyperpigmentation, Ichthyosis, Abnormality of retinal pigmentatio... ORPHA:816
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ... OMIM:209950
Focal Facial Dermal Dysplasia Type Iv
Nevus, Abnormal mast cell morphology ORPHA:398189
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Acanthosis nigr... ORPHA:411593
Fanconi Anemia, Complementation Group G
Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Redundant skin, Aplasi... ORPHA:1807
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Eczematoid dermatitis, Breast ... ORPHA:238468
Aplasia/Hypoplasia of the skin, Skin ulcer, Excessive wrinkled skin, Thin skin ORPHA:2500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Splenomegaly, Ichthyosis, Sparse eyelashes, S... OMIM:607626
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tai... OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,... ORPHA:79480
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Hyperpigmentation of the skin, Follicular hyperkeratosis, E... OMIM:608649
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Follicular hyperkeratosis, Punc... OMIM:616295
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Delayed puberty, Short stature, Sparse hair, Growth delay ORPHA:631
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea, Infer... OMIM:146110
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, Nail dystroph... OMIM:618806
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... OMIM:604777
Papa Syndrome
Skin ulcer, Crohn's disease, Pustule, Increased inflammatory response, Myositis, Increased circul... ORPHA:69126
Chronic Mucocutaneous Candidiasis
Cheilitis, Erythema, Papule, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Skin rash, Ab... ORPHA:1334
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Generalized hypotrichosis OMIM:207780
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Sparse facial hair, Short stature, Absent facial hair, Hyper... ORPHA:2183
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Redundant skin, Long ey... ORPHA:2963
Proteus Syndrome
Nevus, Splenomegaly, Epidermal nevus, Depigmentation/hyperpigmentation of skin, Hyperkeratosis OMIM:176920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Congenital bullous ichthyosifor... OMIM:613576
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy, Sparse hair OMIM:619692
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst... ORPHA:2309
Pneumonia, Localized skin lesion, Brain abscess, Cutaneous abscess, Leukocytosis, Skin rash, Otit... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia,... OMIM:266265
Leopard Syndrome 3
Few cafe-au-lait spots, Multiple lentigines, Dry skin, Low posterior hairline, Curly hair, Hyperk... OMIM:613707
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Dry skin, Vitiligo, Autoimmunity, Macrocytic anemia, Hashimoto thyr... ORPHA:199299
Skin ulcer, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:848
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ... OMIM:242100
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Hypergonadotropic hypogonadism, Aplasia/Hypoplasia of the eyebrow, Sh... ORPHA:2850
Erythema, Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody ... ORPHA:221
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Porphyria Cutanea Tarda, Type I
Addictive alcohol use, Hyperpigmentation of the skin, Eczematoid dermatitis, Hypertrichosis OMIM:176090
Recessive X-Linked Ichthyosis
Dry skin, Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis ORPHA:461
Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar... ORPHA:182
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Atelis Syndrome 1
Irregular hyperpigmentation, Eczematoid dermatitis, Decreased lymphocyte proliferation in respons... OMIM:620184
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... ORPHA:228119
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thi... ORPHA:261304
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Hyperkeratosis OMIM:607936
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Auto... OMIM:615758
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocytopenia, Anemi... OMIM:618116
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... ORPHA:2686
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521