Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SHANK-associated RH domain interacting protein
Synonyms:
SIPL1,  0610041B22Rik,  cpdm

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sharpin mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Oculotrichodysplasia
Nail dysplasia, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Fragile nails, Dry ski... OMIM:257960
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Rec... ORPHA:499
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Congenital alopecia totalis, Cutis laxa, Sparse eyebrow, Absent pubic hair,... ORPHA:2269
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Erythema, Dry skin, Abnormality of the n... ORPHA:2584
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Netherton Syndrome
Sparse scalp hair, Asthma, Urticaria, Congenital nonbullous ichthyosiform erythroderma, Decreased... OMIM:256500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic... ORPHA:443811
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Acrokeratosis Verruciformis
Epidermal acanthosis, Ridged nail OMIM:101900
Sézary Syndrome
Ectropion, Hepatomegaly, Splenomegaly, Alopecia, Dry skin, Abnormal pleura morphology, Abnormal i... ORPHA:3162
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Recu... OMIM:607271
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma, Increased circulating antibody level, Increased circulating IgG level, T ... ORPHA:169154
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... ORPHA:331235
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Pneumonia, Absence of CD8-posit... ORPHA:911
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... OMIM:616100
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Roifman Syndrome
Hip contracture, Short stature, Delayed proximal femoral epiphyseal ossification, Hyperconvex nai... ORPHA:353298
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Eczema, Abscess, Anal fissure, Recurrent tonsillitis, Splenomegaly, Oral ulcer, Ul... OMIM:618935
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Sparse eyebrow, Sparse eyelashes, Alopecia, Palmoplantar erythema, Palmoplantar scal... OMIM:607655
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Epidermal acanthosis, Scaling skin, Fine hair, Slow-growing scalp hair, Alopec... ORPHA:90368
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Absent eyebrow, Scaling skin, Absent eyelashes, Dystrophic fingernails, Nail dystrop... OMIM:604536
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Mixed Connective Tissue Disease
Hepatomegaly, Gastritis, Alopecia, Myocarditis, Osteolysis, Gastrointestinal hemorrhage, Pericard... ORPHA:809
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent gastroenteritis, Urticaria, Gastritis, Alopecia, Eczema, Vomiting... ORPHA:37042
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Immunodeficiency 58
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... OMIM:618131
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Psoriasis 14, Pustular
Epidermal acanthosis, Oligoarthritis, Parakeratosis, Neutrophilia, Leukocytosis, Pustule, Erythem... OMIM:614204
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Alo... OMIM:616576
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... OMIM:619924
Autoimmune Lymphoproliferative Syndrome
Urticaria, Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone ma... ORPHA:3261
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Omenn Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the ... ORPHA:39041
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Schnitzler Syndrome
Urticaria, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, A... ORPHA:37748
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Scaling skin OMIM:113800
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Recurrent respiratory infections, Diarrhea, Chronic lung... OMIM:618108
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Diffuse Cutaneous Mastocytosis
Urticaria, Hepatomegaly, Diarrhea, Vomiting, Pruritus, Erythroderma, Gastrointestinal hemorrhage,... ORPHA:79456
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... OMIM:618534
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail ORPHA:530838
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Parakeratosis, Skin rash, Splenomegaly, Hepatic failure, Maculopapular... ORPHA:398124
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Epidermal acanthosis, Hepatomegaly, Increased circulating IgA level, Splenomeg... OMIM:617388
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Lymphadenitis, Eczem... OMIM:615895
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Growth delay, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circula... OMIM:243700
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Short stature, Eosinophilia, Eczema, Prominent eyela... OMIM:616651
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Autoimmune Lymphoproliferative Syndrome, Type Iia
Urticaria, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular h... OMIM:603909
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Cutis marmorata, Periungual erythema, Joint stiffness, Follicular hyperplasia, Eryth... OMIM:615934
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermatophytosis, Abno... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Epidermal acanthosis, Leukonychia, Scaling skin OMIM:616295
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss,... OMIM:619381
L-Ferritin Deficiency
Alopecia OMIM:615604
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Bazex Syndrome
Lung adenocarcinoma, Yellow nails, Acanthosis nigricans, Hyperkeratosis, Scaling skin, Pruritus, ... ORPHA:166113
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Diarrhea, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased cir... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fractures, High palate, Eczematoid dermatitis, Persistence of primar... OMIM:147060
Bathing Suit Ichthyosis
Multiple joint contractures, Congenital nonbullous ichthyosiform erythroderma, Ectropion, Epiderm... ORPHA:100976
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Eczema, Autoi... OMIM:304790
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Reduced bone... ORPHA:742
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Dry skin, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnor... ORPHA:248
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Immunodeficiency 104
Hepatomegaly, Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... OMIM:615559
Erythrokeratodermia Variabilis
Generalized hirsutism, Skin rash, Alopecia, Short stature, Erythema, Dry skin, Patchy palmoplanta... ORPHA:317
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Erythema, Palmoplantar scaling skin ORPHA:281127
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Ectropion... OMIM:242300
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, Tu... OMIM:619510
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Lymphatic Filariasis
Predominantly lower limb lymphedema, Orchitis, Circulating immune complexes, Lymphadenitis, Glome... ORPHA:2035
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Eczem... ORPHA:83617
X-Linked Agammaglobulinemia
Alopecia, Abnormality of the tonsils, Skin ulcer, Abnormal lung morphology, Weight loss, Malabsor... ORPHA:47
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Intrauterine growth retardatio... ORPHA:84064
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Hepatomegaly, Ly... OMIM:619652
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Recurrent otitis media, Recurrent skin infections, Alopecia, Abnormality of the dent... OMIM:618282
Chronic Actinic Dermatitis
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Bone marrow hyp... OMIM:617303
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Autoimmune Lymphoproliferative Syndrome
Urticaria, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased circulat... OMIM:601859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Peeling Skin Syndrome 4
Epidermal acanthosis, Scaling skin, Nail dystrophy OMIM:607936
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Alopecia, Abnormality of the small int... ORPHA:100025
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Feeding difficulties, Small for gestational age, Hypoplasia of the thym... OMIM:617241
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Dental crowding, Joint contracture of the hand, Macroglossia, Craniosynostosis, Eosino... OMIM:618523
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lymphadeniti... ORPHA:90156
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Igg4-Related Kidney Disease
Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum complement C4, Enlarged kidne... ORPHA:449395
Chromomycosis
Keratitis, Predominantly lower limb lymphedema, Eyelid retraction, Vascular skin abnormality, Hyp... ORPHA:182
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Failure to thrive, Eczema, Di... OMIM:608809
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgA level, Decreased circulating total IgM, Increased suscepti... OMIM:619752
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Erythroderma, Jaundice, Lymphadenopathy,... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... OMIM:308240
Rat-Bite Fever
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... ORPHA:31205
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Epidermal acanthosis, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillar... OMIM:613102
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Rare Cutaneous Lupus Erythematosus
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Cheilitis, ... ORPHA:535
Candidiasis, Familial, 1
Alopecia OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Dehydration, Chronic otitis me... ORPHA:33355
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... ORPHA:90280
Ulerythema Ophryogenesis
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa... ORPHA:3406
Graft Versus Host Disease
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Diarrhea, Vomiting, Pneumon... ORPHA:39812
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Aicardi-Goutieres Syndrome 7
Urticaria, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Intrauteri... OMIM:615846
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Erythema, Gingivitis, Ridge... ORPHA:83453
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Craniosynostosis, Osteopenia, Eczema, Abnormality of the dentition, Delayed eruptio... ORPHA:2314
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis, Erythema OMIM:617524
Iga Pemphigus
Oral mucosal blisters, Increased circulating IgA level, Pustule, Eosinophilia, Generalized abnorm... ORPHA:555905
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... ORPHA:64745
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Urticaria, Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, F... ORPHA:411696
Peeling Skin Syndrome 1
Asthma, Brittle hair, Short stature, Eosinophilia, Scaling skin, Pruritus, Nail dystrophy, Erythr... OMIM:270300
Cole Disease
Epidermal acanthosis OMIM:615522
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Trichothiodystrophy 1, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Triangular mouth, Hypogonadism, Er... OMIM:601675
Boutonneuse Fever
Petechiae, Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... ORPHA:83313
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Orthokeratosis, Hepatomegaly, Sparse hair, Hypodontia, Sparse eyelashes, Al... OMIM:607626
Kid Syndrome
Keratitis, Progeroid facial appearance, Sparse hair, Sparse eyebrow, Abnormality of the dentition... ORPHA:477
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Adult-Onset Still Disease
Joint swelling, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain... ORPHA:829
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Netherton Syndrome
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Sparse eyebrow, Eczema, Erythroderma... ORPHA:634
Tooth Agenesis, Selective, 8
Sparse hair, Dry skin, Sparse eyebrow OMIM:617073
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... OMIM:269840
Cinca Syndrome
Patellar overgrowth, Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveiti... OMIM:607115
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal... OMIM:612260
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Impaired T cell function, Cholestasis, Esophageal varix, Pancytopenia, Intrauterine... OMIM:614576
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Tooth agenesis, Fragile nails, Erythema, Gingival recession, Ichthyosis... OMIM:615821
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... ORPHA:51636
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... ORPHA:2552
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Kindler Epidermolysis Bullosa
Cheilitis, Carious teeth, Abnormal toenail morphology, Colitis, Flexion contracture, Erythema, In... ORPHA:2908
Immunodeficiency 23
High palate, Vasculitis in the skin, Eczema, Abscess, Erythema, Increased circulating IgG level, ... OMIM:615816
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Juvenile Idiopathic Arthritis
Hepatomegaly, Abnormal pleura morphology, Uveitis, Generalized hyperkeratosis, Abnormal joint mor... ORPHA:92
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Pachydermoperiostosis
Hepatomegaly, Osteolysis, Acne, Gastrointestinal hemorrhage, Joint swelling, Malabsorption, Eczem... ORPHA:2796
Lamellar Ichthyosis
Ectropion, Sparse hair, Everted lower lip vermilion, Aplasia/Hypoplasia of the eyebrow, Lack of s... ORPHA:313
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Urticaria, Lymphopenia, Eosinophilia, Abnormal pleura morphology, Arthritis, Limitation of joint ... ORPHA:2582
Rosaï-Dorfman Disease
Erythema, Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Sparse lateral eyebrow, Blepharitis, Joint stiffness, Growth delay... OMIM:604173
Mal De Meleda
Epidermal acanthosis, Inflammatory abnormality of the skin, Flexion contracture, Erythema, Ichthy... ORPHA:87503
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Urticaria, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lym... ORPHA:3260
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Elevated hepatic transaminase, Psoriasiform lesion, Superficial dermal perivascular infl... ORPHA:284426
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar... ORPHA:454
Pityriasis Rubra Pilaris
Erythroderma, Eczema, Pustule, Pruritus ORPHA:2897
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Systemic Mastocytosis With Associated Hematologic Neoplasm
Urticaria, Hepatomegaly, Neutrophilia, Diarrhea, Pruritus, Weight loss, Lymphadenopathy, Abnormal... ORPHA:98849
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopeni... ORPHA:227990
Prolidase Deficiency
High palate, Increased circulating antibody level, Asthma, Petechiae, Hepatomegaly, Diffuse telan... OMIM:170100
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:306400
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Brucellosis
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Hypersplenism, Pulmonary granulomatosis, Knee ... ORPHA:1304
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Short philtrum, Pancytopenia, Gastrostomy tube feeding in infancy, Failure to thriv... OMIM:613385
Ichthyosis With Confetti
Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Hypertrichosis, Ectropio... OMIM:609165
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Malabsorption, Skin rash, Otitis media, Short stature, Diarrhea, Ab... ORPHA:229717
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Dry skin, Facial erythema, Alopecia totalis, Nail dystrophy OMIM:212360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, Malabsorption, Chronic bronchitis,... OMIM:242860
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White sca... OMIM:604777
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Drug Reaction With Eosinophilia And Systemic Symptoms
Enanthema, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial p... ORPHA:139402
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia,... ORPHA:79395
Anonychia With Flexural Pigmentation
Macular telangiectasia, Anonychia, Follicular hyperkeratosis, Carious teeth, Hyperkeratosis, Abno... ORPHA:69125
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Alopecia universalis, Iridocyclitis, Chronic active hepatitis, Chronic oral candi... OMIM:240300
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ... OMIM:300918
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Osteopeni... ORPHA:227982
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Flexion contracture of digit, Woolly hair, Sparse hair, Epiderma... OMIM:619208
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Plague
Respiratory distress, Hepatomegaly, Lymphadenitis, Diarrhea, Vomiting, Acute infectious pneumonia... ORPHA:707
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Eosinophilia, Lymphadenitis, Increased... ORPHA:449427
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... OMIM:617514
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Short stature, Dry skin, Folli... OMIM:308205
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
X-Linked Dominant Chondrodysplasia Punctata
High palate, Anterior rib punctate calcifications, Sparse eyebrow, Abnormally ossified vertebrae,... ORPHA:35173
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Riddle Syndrome
Otitis media, Diarrhea, Chronic sinusitis, Pneumonia, Weight loss, Respiratory failure, Decreased... ORPHA:420741
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... OMIM:104100
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Flexion contracture, Subungual hyperkeratosis,... OMIM:614594
Parana Hard Skin Syndrome
Generalized hirsutism, Short stature, Respiratory insufficiency, Hyperkeratosis, Growth delay, Re... ORPHA:2812
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Generalized edema, Weight loss, Decreased circulating IgA level, Decreased c... ORPHA:90362
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Progeroid facial appearance, Hepatomegaly, Increas... OMIM:256040
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Abnormal oral cavity morphology, Sp... ORPHA:507
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Generalized abnormality of skin, Cr... ORPHA:2902
Cystic Echinococcosis
Urticaria, Hepatomegaly, Multiple pulmonary cysts, Abscess, Peritoneal abscess, Abnormality of th... ORPHA:400
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Immunodeficiency 49
Hirsutism, Inflammatory abnormality of the skin, Lymphopenia, Short palpebral fissure, Cutis laxa... OMIM:617237
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Feeding difficulties, Hepatic failure, Hepatosplenomegaly, Chole... ORPHA:541423
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Partial IgA deficiency, Fai... ORPHA:35078
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Pruritus OMIM:607685
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hypertrichosis, Dermatochalasis, Osteopenia, Diarrhea, B lymphocytopenia, Decreased specific anti... ORPHA:221139
Zika Virus Disease
Intrauterine growth retardation, Subcutaneous hemorrhage, Skin rash, Maculopapular exanthema, Mye... ORPHA:448237
Tularemia
Respiratory distress, Otitis media, Cervical lymphadenopathy, Pneumonia, Inflammatory abnormality... ORPHA:3392
Celiac Disease, Susceptibility To, 1
Steatorrhea, Alopecia, Eczema, Diarrhea, Vomiting, Macrocytic anemia, Weight loss, Decreased circ... OMIM:212750
Mogs-Cdg
Respiratory distress, Apnea, High palate, Hepatomegaly, Alopecia, Long eyelashes, Generalized ede... ORPHA:79330
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepato... ORPHA:824
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Scleroderma
Keratitis, Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Uveitis, Pruri... ORPHA:801
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Cough, Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy ORPHA:99977
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Osteopenia, Diarrhea, Aplastic anemia, Pneumon... ORPHA:486
Proteus Syndrome
Epidermal acanthosis, Lymphangioma, Splenomegaly, Limbal dermoid, Downslanted palpebral fissures,... OMIM:176920
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ... ORPHA:498359
Cutaneous Mastocytoma
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Abdominal pain, Telangiectasia ma... ORPHA:79455
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia,... ORPHA:319552
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Urticaria, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonit... ORPHA:343
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Lymphocytosis, Ski... OMIM:301074
Ichthyosis Prematurity Syndrome
Asthma, Epidermal acanthosis, Dermatographic urticaria, Follicular hyperkeratosis, Allergic rhini... OMIM:608649
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Decreased circulating IgA level, Failure to thrive, Hepatomegaly, Constipation, Flexion co... OMIM:613327
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Sparse hair, Craniosynost... OMIM:620005
Aicardi-Goutieres Syndrome 5
Flexion contracture, Dry skin, Chilblains, Feeding difficulties in infancy, Scaling skin, Arthrop... OMIM:612952
Incontinentia Pigmenti
Keratitis, Sparse hair, Alopecia, Maculopapular exanthema, Coarse hair, Delayed eruption of teeth... OMIM:308300
Sjögren-Larsson Syndrome
Joint stiffness, Urticaria, Short stature, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Inflam... ORPHA:816
Kikuchi-Fujimoto Disease
Hepatomegaly, Vasculitis in the skin, Alopecia, Cervical lymphadenopathy, Myocarditis, Enlargemen... ORPHA:50918
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papule ORPHA:79100
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Conjunctival telangiectasia, T lymphocytopenia, Recurr... OMIM:208900
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis, Delayed puberty ORPHA:2297
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis ORPHA:36237
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Localized Scleroderma
Dental malocclusion, Gastroesophageal reflux, Flexion contracture, Patchy alopecia, Abnormality o... ORPHA:90289
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio... OMIM:617744
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Lymphadenopathy, Pruritus OMIM:254400
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Pseudo-Torch Syndrome 3
Apnea, Leukocytosis, Lymphadenitis, Respiratory insufficiency, Congenital thrombocytopenia, Anemi... OMIM:618886
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Oral mucosal blisters, Palmoplantar hyperkeratosis, Abnormal fingernail morpho... ORPHA:89838
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Alopecia, Diarrhea, Furrowed tongue, Intestinal polyposis, Hypoplas... ORPHA:2930
Cyclic Neutropenia
Otitis media, Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis, Peritonitis, Cycl... ORPHA:2686
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Ectropion... OMIM:612281
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... OMIM:619573
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy ORPHA:52416
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Esophageal stricture, Cutaneous photosensiti... ORPHA:158673
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Urticaria, Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell recep... OMIM:618987
Alveolar Echinococcosis
Vomiting, Hepatic cysts, Pedal edema, Weight loss, Jaundice, Pancreatic cysts, Increased circulat... ORPHA:284
Lig4 Syndrome
Telangiectasia of the skin, Malabsorption, Low anterior hairline, Hepatomegaly, Leukocytosis, Ups... ORPHA:99812
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Abdominal... OMIM:617099
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Recurrent upper an... ORPHA:275
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Feeding difficulties, Dry skin, Hyperkeratosis, Scaling s... OMIM:609180
Incontinentia Pigmenti
Keratitis, Telangiectasia of the skin, Alopecia, Delayed eruption of teeth, Uveitis, Osteolysis, ... ORPHA:464
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Bloom Syndrome
Hypertrichosis, Leukemia, Intrauterine growth retardation, Growth delay, Decreased circulating Ig... OMIM:210900
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lambli... OMIM:615577
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacyt... ORPHA:60026
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Diarrhea, Genu val... ORPHA:231226
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Okur-Chung Neurodevelopmental Syndrome
High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:617062
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Osteolysis, Pneumonia, Pruritus, Pericarditis, Abnor... ORPHA:228123
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema OMIM:147050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Abnormality of the knee, Skin vesicle, Skin fragility with non-scarring blistering, Par... ORPHA:158681
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Short stature, Osteoporosis, Hyperkeratosis, Conical tooth, Absent e... OMIM:618625
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Failure to thrive, Abnormality of hair texture, Gastroesophageal reflux, Fe... ORPHA:79351
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Growth delay, Oral mucosal blisters, Feeding difficulties, Craniosynostosis, R... ORPHA:79396
Keratolytic Winter Erythema
Pustule ORPHA:50943
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Immunodeficiency 7
Failure to thrive, Lymphadenopathy, Hypereosinophilia OMIM:615387
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,... OMIM:602540
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmo... ORPHA:312
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Vomiting, Pneumonia, Pericarditis, Weight loss, R... ORPHA:31204
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Thrombocytope... ORPHA:381
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Weight loss, Dysphagia, O... ORPHA:70482
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Dyspareunia, Skin rash, Erythema, Cough, Abnormal f... ORPHA:1334
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Failure to thrive, Hepatomegaly, Hiatus hernia, Gastroesophageal reflux, Feeding di... ORPHA:2538
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Failure to thrive, Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Eos... OMIM:618999
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent gastroenteritis, Airway obstruction, Hypertrichosis, Enlarged kid... ORPHA:505248
Popov-Chang syndrome
Failure to thrive, Lymphopenia, Gastroesophageal reflux, Feeding difficulties, Short stature, Coa... OMIM:618428
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Hyperconvex nail, Linear arrays of macular hype... OMIM:601952
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Abdominal distention, Spherocytosis, Splenomegaly, Pallor, Extramed... ORPHA:822
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Vasculitis in the skin... ORPHA:90159
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
9Q33.3Q34.11 Microdeletion Syndrome
Constipation, Patellar dislocation, Abnormal shape of the palpebral fissure, Patellar aplasia, Pa... ORPHA:495818
Hypotrichosis 6
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyp... OMIM:607903
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In... OMIM:618048
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the wrist, Hyperkeratosis, Pruritus, Nail dystrophy, Abnormality of the elbow, Abn... ORPHA:89843
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Diarrhea, Vomiting, Uveitis, Periorbital edema, Pericarditis, Splenomegaly, Periton... ORPHA:32960
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia, Abnormality o... ORPHA:517
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Ichthyosis Hystrix Of Curth-Macklin
Flexion contracture, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, ... ORPHA:79503
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Sparse hair, Eczema, Congenital hip dislocation, Aplastic anem... OMIM:617052
Aggressive Systemic Mastocytosis
Abdominal cramps, Urticaria, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mas... ORPHA:98850
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... ORPHA:231214
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Incr... ORPHA:36234
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Cutis marmorata, Myocarditis, Abnormal pleura morphology, Increased inflammatory respo... ORPHA:183
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule ORPHA:222
Porokeratosis Of Mibelli
Cutaneous photosensitivity, Porokeratosis, Hyperkeratosis, Pruritus ORPHA:735
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Hypodontia, Sparse eyebrow, Small for gestational age, Thin vermilion border, Short... OMIM:618419
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse scalp hair, Absent hair, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Trichorrhexis n... ORPHA:1010
Dyskeratosis Congenita
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Tracheoesophage... ORPHA:1775
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Decreased serum complement C4, Diarrhea, Vomiting, Microangiopathic... ORPHA:93552
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Narrow mouth, Short palpebral fissure, Hypodontia, Feeding difficulties, Thin eyebrow, Eo... OMIM:618092
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Atopic dermatitis, Eosinophilia... ORPHA:2070
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Cleft palate, Osteopenia, Osteoporosis... OMIM:612562
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Asthma, Hypertrichosis, Short stature, Hepatosplenomegaly, Downslanted palpebral fis... OMIM:619750
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Felty Syndrome
Hepatomegaly, Osteolysis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Abnormal joint mor... ORPHA:47612
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ichthyosis, Hepatomegaly, Splenomegaly ORPHA:2274
Smith-Kingsmore Syndrome
Wide mouth, Decreased circulating IgA level, Feeding difficulties, Long philtrum, Large for gesta... OMIM:616638
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Cutis marmorata, Eczema, Esophageal varix, Pancytopenia, Bone marrow hypocellularit... OMIM:615688
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hypertrichosis, Cutis laxa, Eczema, Dry skin, Elevated hepatic transaminase, M... OMIM:612379
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Hypertrichosis, Viral hepatitis, Periportal fibrosis, Hirsut... ORPHA:101330
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin ... OMIM:301000
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema, Pruritus ORPHA:33314
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... OMIM:300310
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Asthma, Flexion contracture, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Scaling skin, Growth... OMIM:614457
Immunodeficiency 50
Lymphopenia, Eczema, Decreased circulating antibody level, Neutropenia, Recurrent respiratory inf... OMIM:300988
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Failure to thrive, Gastroesophageal reflux, Pallor, Anorexia, Eo... ORPHA:90045
Necrobiosis Lipoidica
Telangiectasia of the skin, Inflammatory abnormality of the skin, Abnormality of neutrophil physi... ORPHA:542592
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Joint dislocation, Hiatus hernia, Gastroesophageal reflux, Severe short stature,... ORPHA:1901
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr... OMIM:618495
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Rothmund-Thomson Syndrome Type 2
High palate, Facial edema, Sparse hair, Cleft palate, Osteopenia, Abnormality of the dentition, D... ORPHA:221016
H Syndrome
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Facial telangiectasia, Hypogonadism, Cleft... ORPHA:168569
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Epidermal acanthosis, Osteomyelitis, Hepatomegaly, Neutroph... OMIM:612852
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Pruritus, Leukemia ORPHA:157991
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Paronychia, Diar... OMIM:201100
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Paronychia, Villous ... OMIM:614328
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Anal atresia, Delayed ossification of carpal bones, Lymphopenia, Eosinoph... OMIM:617425
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Finger joint hypermobility, Long philtrum, Follicular hyperkeratosis, Nail ... OMIM:615225
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess OMIM:613148
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Mucosal telangiectasiae, Hepatome... ORPHA:779
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Neoplasm of the oral cavity, Hepatitis, Hyperkeratosis,... ORPHA:525
Igg4-Related Ophthalmic Disease
Keratitis, Pancreatitis, Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Pe... ORPHA:449563
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent ski... ORPHA:33110
Stevens-Johnson Syndrome
Pancreatitis, Dyspareunia, Diarrhea, Abnormal pleura morphology, Gastrointestinal hemorrhage, Wei... ORPHA:36426
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Failure to thrive, Ectropion, Alopecia, Short stature, Ichthyosis, Pruritus, Erythrode... ORPHA:79394
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Carious teeth, Pyloric stenosis, Intr... OMIM:616395
Simple Cryoglobulinemia
Vascular skin abnormality, Complement deficiency, Monoclonal elevation of circulating IgA, Gastro... ORPHA:91139
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Eczema, Diar... OMIM:619991
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Indolent Systemic Mastocytosis
Abdominal cramps, Urticaria, Flushing, Hepatomegaly, Abnormal mast cell morphology, Skin rash, Sp... ORPHA:98848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Diarrhea, Absence of lymph node ge... ORPHA:79124
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteopor... ORPHA:100024
Esophageal Atresia
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Vomiting, Pyloric stenosis, Pulmon... ORPHA:1199
Viss Syndrome
High palate, Chronic gastritis, Alopecia, Eczema, Pulmonary artery aneurysm, Genu valgum, Broad u... OMIM:619472
Toxic Epidermal Necrolysis
Respiratory distress, Pancreatitis, Tracheoesophageal fistula, Abnormal pleura morphology, Skin u... ORPHA:537
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Cheilitis, Alopecia universalis, Anoperineal fistula, Sparse hair, Recurrent s... ORPHA:158668
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Diarrhea, Telecanthus,... ORPHA:2575
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Foll... OMIM:308800
Dubowitz Syndrome
High palate, Otitis media, Eczema, Aplastic anemia, Delayed eruption of teeth, Carious teeth, Int... OMIM:223370
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis OMIM:148500
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Diarrhea, Nonimmune hydrop... OMIM:212065
Acrodermatitis Enteropathica
Cheilitis, Abnormality of the tongue, Alopecia, Glossitis, Furrowed tongue, Skin ulcer, Weight lo... ORPHA:37
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... OMIM:613573
Epidermolysis Bullosa, Junctional 5A, Intermediate
Onycholysis of distal fingernails, Absent pubic hair, Nail dystrophy, Onychogryposis, Absent axil... OMIM:619816
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Failure to thrive, Hepatomegaly, Lymphopenia, Fl... OMIM:617591
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormality of the lymph nodes OMIM:136580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, T lym... OMIM:601457
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Abdominal pain, Splenomegaly, Arthr... ORPHA:42642
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Abnormal hair morphology,... OMIM:242100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Short st... OMIM:615952
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Familial Cold Autoinflammatory Syndrome 2
Urticaria, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Arthritis, Recurrent aphthous s... OMIM:611762
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Downslanted palpebral fissures, Ichthyosis, Palmoplantar... OMIM:609528
Trichothiodystrophy
Multiple joint contractures, Craniosynostosis, Osteopenia, Eczema, Panhypogammaglobulinemia, Cari... ORPHA:33364
Transgrediens Et Progrediens Palmoplantar Keratoderma
High palate, Recurrent bacterial skin infections, Flexion contracture of finger, Recurrent cutane... ORPHA:495
Rothmund-Thomson Syndrome Type 1
Facial edema, Sparse hair, Osteopenia, Abnormality of the dentition, Diarrhea, Aplastic anemia, V... ORPHA:221008
Immunodeficiency 69
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Cough, Feeding difficulties in ... ORPHA:99976
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Edema,... OMIM:603552
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Le... ORPHA:77297
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Aicardi-Goutieres Syndrome 1
Petechiae, Hepatomegaly, Multiple gastric polyps, Splenomegaly, Short stature, Erythema, Chilblai... OMIM:225750
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Urticaria, Abnormality of the dentition, Eczema, Abnormal pigmentatio... ORPHA:2907
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Epidermal acan... OMIM:257980
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79399
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Pemphigus Foliaceus
Pustule, Erythema, Abnormal oral mucosa morphology, Acantholysis, Scaling skin, Crusting erythema... ORPHA:79481
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Hennekam-Beemer Syndrome
High palate, Telangiectasia of the skin, Urticaria, Failure to thrive, Abdominal pain, Upslanted ... ORPHA:2135
Waldenström Macroglobulinemia
Urticaria, Hepatomegaly, Cutis marmorata, Diarrhea, Pedal edema, Periorbital edema, Gastrointesti... ORPHA:33226
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Infantile Digital Fibromatosis
Epidermal acanthosis, Hyperkeratosis, Parakeratosis ORPHA:199267
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Epidermal acanthosis, Mild intrauterine growth retardation, Orthokeratosis, Para... OMIM:308050
Cardiofaciocutaneous Syndrome 1
High palate, Constipation, Sparse hair, Osteopenia, Abnormality of the dentition, Vomiting, Downs... OMIM:115150
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Ede... ORPHA:3165
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Apnea, Urticaria, High palate, Wide mouth, Dental crowding, ... OMIM:619503
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Alopecia, Decreased serum complement C3, Leukopenia, Decreased serum... OMIM:301080
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, Abnormality of the dentition, Abnor... ORPHA:659
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Uveitis,... ORPHA:171
Dermatitis, Atopic