banner
Genes Phenotypes Help, News, Blog

Gene: Sharpin MGI:1913331

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation 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
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Scaling skin, Sparse axillary hair, Nail dysplasia, S... OMIM:257960
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Lymphadenopathy, Inflammatory a... ORPHA:499
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Cutis laxa, Absent axillary hair, Scaling skin, Absent pubic hair, Alopecia of sc... ORPHA:2269
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Abnormal eyelid morphology, Hyperkeratosis, Abnorma... ORPHA:2584
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atr... OMIM:256500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis OMIM:101900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Peeling Skin Syndrome 1
Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture OMIM:270300
Sézary Syndrome
Pruritus, Palmoplantar keratoderma, Ectropion, Erythroderma, Abnormal lymphocyte morphology, Abno... ORPHA:3162
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Trichodysplasia-Xeroderma
Trichodysplasia, Dry hair, Sparse hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Roifman Syndrome
Underdeveloped nasal alae, Prominent eyelashes, Downturned corners of mouth, Postnatal growth ret... ORPHA:353298
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased circul... ORPHA:169154
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Joint swelling, Xerostomia, Joint stiffness, Leukopenia, Myoc... ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Pulmonary fibrosis, Lymphadenitis, Oral ulcer, Acute pancreatitis, Recur... OMIM:618935
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Generalized lymphadenopathy... OMIM:618986
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Scaling skin, Sparse hair OMIM:604536
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Ichthyosis, Bronchiectasis, Helicobacter pylori infecti... OMIM:618131
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Hydrops fetalis, Abnormal proportion of CD4-positive T cells, Abnormal serum inter... ORPHA:3261
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Psoriasis 14, Pustular
Pustule, Leukocytosis, Geographic tongue, Polyarticular arthritis, Erythema, Furrowed tongue, Cho... OMIM:614204
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Growth delay, Uveitis,... OMIM:617388
Omenn Syndrome
Pruritus, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morph... ORPHA:39041
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Increased bone mineral densit... ORPHA:37748
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Scaling skin, Erythema, Concave nail, Dry skin ORPHA:530838
Roifman Syndrome
Recurrent pneumonia, Long philtrum, Underdeveloped nasal alae, Prominent eyelashes, Downturned co... OMIM:616651
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Neonatal Lupus Erythematosus
Skin rash, Parakeratosis, Hemolytic anemia, Elevated hepatic transaminase, Hyperkeratosis, Neutro... ORPHA:398124
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Scaling skin, Epidermal acanthosis, Onycholysis OMIM:616295
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Patchy alopecia, Abnormal hair morphology, Erythema ORPHA:346
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Ichthyosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis m... OMIM:618495
Bazex Syndrome
Pruritus, Yellow nails, Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Lip hyper... ORPHA:166113
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Paratracheal lymphadenopathy, Erythema, Increased circulating IgG level, Joint stiffne... OMIM:615934
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Decr... ORPHA:169160
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Leukocytosis, Increased circu... OMIM:260920
Prolidase Deficiency
Pruritus, Carious teeth, Thin skin, Hirsutism, Erythema, Depressed nasal bridge, Low anterior hai... ORPHA:742
L-Ferritin Deficiency
Alopecia OMIM:615604
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Eczematoid der... OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Bathing Suit Ichthyosis
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Ectropion, Erythroderm... ORPHA:100976
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased circulating IgE, Pulmonary infi... OMIM:618394
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Alopecia, Abnormal toenail morphology, ... ORPHA:248
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Pruritus, Seborrheic dermatitis, Narrow mouth, Underdeveloped nasal ala... ORPHA:83617
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,... ORPHA:317
Syndromic Diarrhea
Panhypogammaglobulinemia, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Small f... ORPHA:84064
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Bloom Syndrome
Skin rash, Pneumonia, Small for gestational age, Male infertility, Otitis media, Telangiectasia, ... ORPHA:125
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, He... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Failure to th... OMIM:269840
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
X-Linked Agammaglobulinemia
Skin rash, Neutropenia, Weight loss, Anemia, Sinusitis, Abnormality of the tonsils, Osteomyelitis... ORPHA:47
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Ectropion, Erythroderma, Everted lower lip vermilion, Flexion contracture, Nail dysp... OMIM:242300
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Patent ductus arteriosus, ... OMIM:617303
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Deep dermatophytosi... OMIM:212050
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia, Erythema ORPHA:3406
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Psoriasis 2
Scaling skin, Epidermal acanthosis OMIM:602723
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Peeling Skin Syndrome 4
Nail dystrophy, Scaling skin, Epidermal acanthosis OMIM:607936
Lymphatic Filariasis
Epididymitis, Abnormal lung morphology, Wheezing, Restrictive ventilatory defect, Lymphadenitis, ... ORPHA:2035
Graft Versus Host Disease
Scaling skin, Pneumonia, Maculopapular exanthema, Stiff interphalangeal joints, Limited shoulder ... ORPHA:39812
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Eczema, Late onset atopic dermatitis ORPHA:330064
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Joint hypermobility, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, High pa... OMIM:618282
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Increased circulating IgG1 level, Pleuritis, Pericarditis, I... ORPHA:449395
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lymphadenitis, Scaling skin, Erythema, Alopecia, Reduced subcuta... ORPHA:90156
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Rat-Bite Fever
Skin rash, Pericarditis, Abdominal aseptic abscess, Scaling skin, Maculopapular exanthema, Weight... ORPHA:31205
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Recurrent upper respiratory t... ORPHA:277
Chromomycosis
Pruritus, Abnormal lung morphology, Osteolysis, Ankylosis, Ectropion, Hyperparakeratosis, Hyperke... ORPHA:182
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Pruritus, Craniosynostosis, Cough, Eczema, Gingivitis, Osteomyelitis, Eosinophilia, Ge... ORPHA:2314
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Epidermal acan... OMIM:613102
Alpha-Heavy Chain Disease
Abdominal pain, Growth delay, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Ascites, Anemia, ... ORPHA:100025
Rare Cutaneous Lupus Erythematosus
Abnormality of the periungual region, Pterygium of nails, Abnormality of the elbow, Leukonychia, ... ORPHA:535
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Apnea, Chronic gastritis, Dysphagia, Neutropenia, Colitis, D... OMIM:608809
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Alopecia, Thin fingernail, Erythema ORPHA:495
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Cole Disease
Epidermal acanthosis OMIM:615522
Chilblain Lupus
Skin rash, Hyperkeratosis, Increased circulating antibody level, Pruritis on hand, Discoid lupus ... ORPHA:90280
Candidiasis, Familial, 1
Alopecia OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Impaired... OMIM:605258
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Palmar pruritus, Facial erythema, Pruritus on foot, Eczematoid der... ORPHA:64745
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Neutropenia, Maculopapular exanthema, Abnormality of tumor necrosis factor secretion, ... ORPHA:540
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis, Erythema OMIM:617524
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Vulvovaginal Gingival Syndrome
Pruritus, Oral ulcer, Ridged nail, Erythema, Abnormality of tumor necrosis factor secretion, Epid... ORPHA:83453
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Macroglossia, Craniosynostosis, Increased circulating IgE level, Arthropathy, Bronchiectasis, Den... OMIM:618523
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Small for gestational age, Telangiectasia, Congenital nonbullous ichthyosiform ... OMIM:601675
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Iga Pemphigus
Pustule, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Genera... ORPHA:555905
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Hirsutism, Epicanthu... OMIM:246550
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Recurrent respiratory infections, Reduced isohemagglutinin level, Pharyngalgia,... OMIM:614699
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Aspergillosis
Pleuritis, Bronchiectasis, Dacryocystitis, Cough, Abnormal esophagus morphology, Neutropenia, Pne... ORPHA:1163
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Abdominal pain, Nausea... ORPHA:83313
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Kindler Epidermolysis Bullosa
Carious teeth, Abnormal dental enamel morphology, Erythema, Anemia, Abnormal toenail morphology, ... ORPHA:2908
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Increased circulating IgM level, Short nose, Bronchiectasis, Epi... OMIM:242860
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Dry skin OMIM:617073
Adult-Onset Still Disease
Skin rash, Pruritus, Restrictive ventilatory defect, Pleuritis, Pericarditis, Joint swelling, Abd... ORPHA:829
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Nail dysplasia, Sparse and thin eyebrow, Alopecia, Woolly hair, Nail dystrophy, Spa... OMIM:607655
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Gingival recession, ... OMIM:615821
Cinca Syndrome
Skin rash, Leukocytosis, Lymphedema, Growth delay, Uveitis, Eosinophilia, Patellar overgrowth, An... OMIM:607115
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Netherton Syndrome
Skin rash, Ichthyosis, Dehydration, Eczema, Congenital nonbullous ichthyosiform erythroderma, Aca... ORPHA:634
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Decreased cir... OMIM:618969
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Ichthyosis, Oligodontia, Sparse hair, Thick hair, Hypodontia, Hepatomegaly, Ja... OMIM:607626
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Bloom Syndrome
Decreased fertility in females, Azoospermia, Agenesis of maxillary lateral incisor, Bronchiectasi... OMIM:210900
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Rosaï-Dorfman Disease
Osteolysis, Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 23
Joint hypermobility, Bronchiectasis, Vasculitis in the skin, Neutropenia, Erythema, Increased cir... OMIM:615816
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosu... OMIM:614576
Prolidase Deficiency
Anemia, High palate, Eczema, Low posterior hairline, Depressed nasal bridge, Diffuse telangiectas... OMIM:170100
Juvenile Idiopathic Arthritis
Skin rash, Nail pits, Joint swelling, Pericardial effusion, Joint stiffness, Abnormal pleura morp... ORPHA:92
Pachydermoperiostosis
Seborrheic dermatitis, Joint swelling, Eczematoid dermatitis, Anemia, Osteomyelitis, Osteoporosis... ORPHA:2796
Idiopathic Hypereosinophilic Syndrome
Pruritus, Joint swelling, Cough, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hep... ORPHA:3260
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Thickened skin, Urticaria, Limitation of joint mobility,... ORPHA:2582
Acquired Ichthyosis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infectio... ORPHA:454
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Camptodactyly, Choanal atresia, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Reduce... OMIM:613385
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Interstitial pneumonitis, Thyroiditis, Cough, Weight loss, Erythema, My... ORPHA:139402
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Dermatochalasis, Decreased specific antibody response to vaccination, D... ORPHA:221139
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Plague
Skin rash, Chapped lip, Abnormality of the elbow, Anorexia, Diarrhea, Vomiting, Bloody diarrhea, ... ORPHA:707
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinop... OMIM:607685
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Osteopetrosis, Hepatomegaly, Petechiae, Re... OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pustule, Pruritus, Elevated hepatic transaminase, Superficial dermal perivas... ORPHA:284426
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Lamellar Ichthyosis
Pruritus, Ichthyosis, Abnormality of the nail, Sparse hair, Ectropion, Hyperkeratosis, Erythroder... ORPHA:313
Pityriasis Rubra Pilaris
Pruritus, Erythroderma, Pustule, Eczema ORPHA:2897
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233690
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Hypergonadotropic hypogonadism, Decreased circulating... ORPHA:227990
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Weight loss, Chronic myelomonocytic leukemia, Diarrhea, Increased susceptibility to fra... ORPHA:98849
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Brucellosis
Pericarditis, Pneumonia, Weight loss, Anorexia, Increased circulating IgG level, Small for gestat... ORPHA:1304
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, My... ORPHA:73263
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Failure to thrive in infancy, Rectovaginal fistula, Acute otitis media, T lymphocytope... ORPHA:35078
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Olmsted Syndrome, X-Linked
Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopec... OMIM:300918
Anonychia With Flexural Pigmentation
Carious teeth, Anonychia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular... ORPHA:69125
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Scaling skin, Erythema, Weig... ORPHA:420741
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Nail dysplasia, Alopecia totalis, Nail dystrophy, Dry skin OMIM:212360
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Palmoplantar erythema, Nail dysplasia, Brittle hair, Al... OMIM:104100
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Olmsted Syndrome 2
Pruritus, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Flexion contracture o... OMIM:619208
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Thyroiditis, Postnatal growth retardation, Weight loss, Delayed puberty, Diarr... OMIM:212750
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Oligohydramnios, Ectodermal dysplasia, Erythroderma, Aganglionic megacolon, Abs... OMIM:308205
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Dermal translucency, Joint laxity, Feeding difficulties, Elevated hepatic transamina... ORPHA:541423
Igg4-Related Pachymeningitis
Abnormal lung morphology, Dyspnea, Lymphadenitis, Dysphagia, Increased circulating IgG4 level, Co... ORPHA:449427
Cystic Echinococcosis
Abnormality of the peritoneum, Weight loss, Jaundice, Abdominal symptom, Eosinophilia, Hepatic cy... ORPHA:400
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Malabsorption, Pneumonia, ... ORPHA:229717
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopeni... ORPHA:227982
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Ichthyosis With Confetti
Erythroderma OMIM:609165
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Sparse axillary hair, Erythema, Increased circulating IgG level, Hyper... OMIM:256040
Parana Hard Skin Syndrome
Hyperkeratosis, Growth delay, Restricted chest movement, Respiratory insufficiency, Thickened ski... ORPHA:2812
Olmsted Syndrome 1
Pruritus, Sparse hair, Palmoplantar keratoderma, Flexion contracture, Nail dysplasia, Subungual h... OMIM:614594
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Conjunctival telangiec... OMIM:208900
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Thymoma
Skin rash, Pericarditis, Thyroiditis, Cough, Abnormality of the peritoneum, Pancytopenia, Xerosto... ORPHA:99867
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Craniosynostosis, Erythema, Fragile skin, Oral mucosal blisters, Anemia, Bronc... ORPHA:79396
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hep... OMIM:240300
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Scleroderma
Pruritus, Pericarditis, Narrow mouth, Abnormal large intestine morphology, Sclerodactyly, Myocard... ORPHA:801
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Immunodeficiency 49
Wormian bones, Short philtrum, Cutis laxa, Lymphopenia, Hirsutism, Upslanted palpebral fissure, N... OMIM:617237
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Joint hypermobility, Feeding difficulties, Decreased circulating antibody ... OMIM:617062
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Cough, Nausea and vomiting, Feeding difficulties in infancy, Lymphadenopathy ORPHA:99977
Lig4 Syndrome
Low anterior hairline, Thin vermilion border, Leukocytosis, Growth delay, Upslanted palpebral fis... ORPHA:99812
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Growth delay, Short stature, Failure to thrive, Recurrent s... OMIM:617744
Autosomal Dominant Severe Congenital Neutropenia
Neutropenia, Pneumonia, Diarrhea, Pyoderma gangrenosum, Gingivitis, Eosinophilia, Oral ulcer, Ost... ORPHA:486
Epidermolytic Palmoplantar Keratoderma
Palmoplantar keratoderma, Localized epidermolytic hyperkeratosis, Erythema, Eczema, Abnormal fing... ORPHA:2199
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Elevated hepatic transaminase, Feeding difficulties, Acanthosis nigricans, Hepatic ... OMIM:613327
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal serum interleukin level, Lymphadenitis, Vasculitis in the skin, Salmonella osteomyelitis... ORPHA:319552
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Urticaria, Abdominal pain, Growt... ORPHA:343
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent gastroenteritis, Chronic oral candidiasis, Recurrent upper and lower respira... ORPHA:275
Immunodeficiency 55
Ichthyosis, Neutropenia, Postnatal growth retardation, Diarrhea, Short stature, Intrauterine grow... OMIM:617827
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Sjögren-Larsson Syndrome
Ichthyosis, Abnormal dental enamel morphology, Hyperkeratosis, Erythema, Joint stiffness, Short s... ORPHA:816
Cyclic Neutropenia
Peritonitis, Sinusitis, Cyclic neutropenia, Gingivitis, Otitis media, Lymphadenopathy, Cervical l... ORPHA:2686
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce... ORPHA:498359
Aicardi-Goutieres Syndrome 5
Flexion contracture, Scaling skin, Chilblains, Thrombocytopenia, Feeding difficulties in infancy,... OMIM:612952
Primary Myelofibrosis
Poikilocytosis, Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, ... ORPHA:824
Immunodeficiency, Common Variable, 10
Trachyonychia, Recurrent otitis media, Recurrent sinusitis, Pyloric stenosis, Decreased circulati... OMIM:615577
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis, Delayed puberty ORPHA:2297
Localized Scleroderma
Esophagitis, Abnormality on pulmonary function testing, Sclerosis of finger phalanx, Gastroesopha... ORPHA:90289
Coccidioidomycosis
Peritonitis, Skin rash, Pruritus, Pericarditis, Cough, Abnormal sperm morphology, Pneumonia, Incr... ORPHA:228123
Cronkhite-Canada Syndrome
Anorexia, Diarrhea, Anemia, Hamartomatous polyposis, Hypoplastic toenails, Furrowed tongue, Dystr... ORPHA:2930
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent sinopulmonary infectio... OMIM:609529
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Ridged nail, Oral mucosal ... ORPHA:89838
Bullous Impetigo
Pustule, Abnormality of the lymphatic system, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Cough, Weight loss, Jaundice, Decreased l... ORPHA:284
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Palmoplantar keratosis with erythema and scale, Thin skin, Abnormality o... ORPHA:158673
Pseudo-Torch Syndrome 3
Apnea, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Respiratory insufficiency, Cardi... OMIM:618886
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Plasmacytosis, Follicular hyperplasia, Nodular patter... ORPHA:60026
Popov-Chang syndrome
Long philtrum, Feeding difficulties, Hyperkeratosis, Decreased circulating antibody level, Lympho... OMIM:618428
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Dacryocystitis, Thyroiditis, Pneumonia, ... ORPHA:31204
Smith-Kingsmore Syndrome
Long philtrum, Short nose, Feeding difficulties, Open mouth, Rhizomelia, Curly hair, Wide mouth, ... OMIM:616638
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Ectropion, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakera... OMIM:612281
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1334
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Joint swelling, Abdominal pain, Leukocytosis, Chronic... OMIM:617099
Congenital Disorder Of Glycosylation, Type If
Feeding difficulties, Hyperkeratosis, Erythroderma, Flexion contracture, Scaling skin, Failure to... OMIM:609180
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pruritus, Vasculitis in the skin, Generalized lymphadenopathy, Neutrope... ORPHA:50918
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Abnormality of the knee, Pruritus, Erythema migrans, Parakeratosis, Skin fragility with non-scarr... ORPHA:158681
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and ... OMIM:613573
Keratolytic Winter Erythema
Pustule ORPHA:50943
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hypertrichosis, Joint stiffness, Anemia, Leukopenia, Pulmonary arterial... ORPHA:505248
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Nasal polyposis, Cough, Respiratory insufficiency, Weight loss, Cutis marmorata, Sinus... ORPHA:183
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Asthma... OMIM:618999
9Q33.3Q34.11 Microdeletion Syndrome
Thin vermilion border, Bulbous nose, Narrow mouth, Patent ductus arteriosus, Telangiectasia, Wide... ORPHA:495818
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, ... OMIM:242100
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Decreased cir... ORPHA:381
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Incontinentia Pigmenti
Skin rash, Abnormal dental enamel morphology, Ridged fingernail, Erythema, Oral cleft, Pulmonary ... ORPHA:464
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Esophagitis, Generalized ichthyosis, Feeding difficulties, Megaloblastic anemia, Gastroesophageal... ORPHA:79351
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Scaling skin, Pneumonia, Diarrhea, Myocarditis, Sinusitis, Vomiting, Myos... ORPHA:36234
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Dubowitz Syndrome
Carious teeth, Postnatal growth retardation, Episodic vomiting, High palate, Eczema, Otitis media... OMIM:223370
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Erythema, Reduced subcutaneous adipose tissue, Abnormal immunoglobulin le... ORPHA:90159
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Long philtrum, Oligodontia, Narrow mouth, Feeding difficulties, Epicanthus, Hypodontia, Thin uppe... OMIM:618092
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Sparse scalp hair, Alopecia, Aplasia/Hypoplasi... ORPHA:129
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Parakeratosis, Acanthocytosis, Orth... OMIM:604777
Rothmund-Thomson Syndrome Type 2
Carious teeth, Nasogastric tube feeding, Abnormal dental enamel morphology, Synostosis involving ... ORPHA:221016
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar hyperkeratos... OMIM:601952
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Disproportionate short stature, Hepatic cysts, Lymphopenia, Erythroderma,... OMIM:617425
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Extramedull... ORPHA:822
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Congenital bul... ORPHA:312
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Hypotrichosis 6
Pruritus, Sparse hair, Erythema, Follicular hyperkeratosis, Sparse and thin eyebrow, Brittle hair... OMIM:607903
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Hyperkeratosis, Flexion contracture, Diffuse palmoplantar hyperkeratosis, Recurrent s... ORPHA:79503
Kid Syndrome
Ichthyosis, Carious teeth, Recurrent bacterial skin infections, Erythema, Abnormality of the tong... ORPHA:477
Zika Virus Disease
Skin rash, Pruritus, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Intraute... ORPHA:448237
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Sparse hair, Absent eyelashes, Hyperkeratosis, Recurrent otitis ... OMIM:618625
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva, Pallor,... ORPHA:517
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Truncus arteriosus, Feeding difficulties, Perineal fistula, Elbow dis... ORPHA:2538
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Hyperkeratosis, Abnormality of the elbow, Abnormality ... ORPHA:89843
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Atopic dermatitis, Incr... OMIM:618944
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis, Cutaneous photosensitivity ORPHA:735
Incontinentia Pigmenti
Nail pits, Ridged nail, Coarse hair, Erythema, Eosinophilia, Onychogryposis, Hyperkeratosis, Uvei... OMIM:308300
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Proteus Syndrome
Limbal dermoid, Open mouth, Hyperkeratosis, Ptosis, Epidermal acanthosis, Splenomegaly, Lymphangi... OMIM:176920
Diamond-Blackfan Anemia 7
Osteoporosis, Esophagitis, Polyhydramnios, Recurrent otitis media, Growth delay, Patent ductus ar... OMIM:612562
Esophageal Atresia
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, I... ORPHA:1199
Pediatric Systemic Lupus Erythematosus
Skin rash, Pericardial effusion, Decreased serum complement C4, Discoid lupus rash, Diarrhea, Leu... ORPHA:93552
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Chronic diarrhea, Growth delay, Colitis, Rec... OMIM:619164
Tylosis With Esophageal Cancer
Esophageal carcinoma, Abnormality of the mouth, Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Neoplasm of the pancreas, Aplastic/hypoplastic ... ORPHA:1775
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Esophagitis, Eosinophilic, 2
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:610247
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hiatus hernia, Esophagitis, Rickets, Joint hyperflexibility, Thin skin, Gastroesoph... ORPHA:1901
Carcinoma Of Esophagus
Dysphagia, Cough, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine m... ORPHA:70482
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Joint hypermobility, Congenital hip dislocation, Pancytopenia, Downslanted pal... OMIM:617052
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Facial hypertrichosis OMIM:176100
Necrobiosis Lipoidica
Granuloma, Erythema, Telangiectasia of the skin, Fragile skin, Abnormality of neutrophil physiolo... ORPHA:542592
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
H Syndrome
Ichthyosis, Bronchiectasis, Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Lympha... ORPHA:168569
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erythema, Erysipelas, Diarrhea, Vomiting, Myosit... ORPHA:32960
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Poor wound healing, Elevated hepatic transaminas... ORPHA:101330
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema, Recurrent respiratory inf... OMIM:300988
Basan Syndrome
Hyperkeratosis, Ectodermal dysplasia, Flexion contracture, Epidermal acanthosis OMIM:129200
Felty Syndrome
Pleuritis, Pericarditis, Neutropenia, Weight loss, Anemia, Sinusitis, Lymphadenopathy, Osteolysis... ORPHA:47612
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Abnormality of the gastrointest... ORPHA:2070
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema ORPHA:33314
Stevens-Johnson Syndrome
Cough, Weight loss, Erythema, Diarrhea, Anemia, Entropion, Abnormal pleura morphology, Excessive ... ORPHA:36426
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Cutis marmorata, Leukopenia, Anemia, Eczema, Lymphadenopathy, Purpura, O... OMIM:615688
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Obes... OMIM:300310
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Malnutrition, Gastrointestinal hemorrhage... ORPHA:2494
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Finger joint hypermobility, Palmoplantar keratoderma, Ectodermal dysplasia, Follic... OMIM:615225
Aggressive Systemic Mastocytosis
Pruritus, Neutropenia, Maculopapular exanthema, Anorexia, Pancytopenia, Weight loss, Pathologic f... ORPHA:98850
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Elevated hepatic transaminase, Microcytic anemia, Hyperkeratosis, Cutis laxa, Hypertr... OMIM:612379
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Abnormality of the nail, Facial erythema, Palmoplantar keratoderma, Ectropion, Scar... OMIM:308800
Reynolds Syndrome
Skin rash, Cirrhosis, Pruritus, Generalized abnormality of skin, Dysphagia, Gastroesophageal refl... ORPHA:779
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent sinopulmonary infections, Asthma, Eczema, Eosinophilia OMIM:243700
Hereditary Folate Malabsorption
Glossitis, Megaloblastic anemia, Decreased circulating antibody level, Gastroesophageal reflux, C... ORPHA:90045
Generalized Eruptive Histiocytosis
Pruritus, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Ichthyosis, Palmoplantar keratoderma, Wide nasal bridge, Aspiration pneumonia, Failure to thrive,... OMIM:609528
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Pulmonary fibrosis, Decreased propo... OMIM:611926
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Toxic Epidermal Necrolysis
Cough, Neutropenia, Weight loss, Erythema, Anemia, Entropion, Respiratory distress, Abnormal pleu... ORPHA:537
Lichen Planopilaris
Pruritus, Onycholysis, Neoplasm of the oral cavity, Hyperkeratosis, Hepatitis, Pterygium, Alopeci... ORPHA:525
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Limited elbow extension, Thin vermilion border, Sparse eyebrow, Long philt... OMIM:618419
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Osteoporosis, Generalized abnormal... ORPHA:98848
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Pyoderma gangre... OMIM:604416
Igg4-Related Ophthalmic Disease
Dacryocystitis, Thyroiditis, Increased circulating IgG4 level, Sinusitis, Periorbital edema, Retr... ORPHA:449563
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Osteolysis, Respiratory distress, Joint swelling, Pulmonary fibrosis, Hyperke... OMIM:612852
Greenberg Dysplasia
Polyhydramnios, Tracheal calcification, Epiphyseal stippling, Intestinal malrotation, Abnormal pe... OMIM:215140
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Leukocytosis, Lymphadenopathy, Pharyngalgia, Splenomegaly, Recurrent a... OMIM:611762
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Malabsorption, Chronic otitis media, Neutropenia, Recurrent res... ORPHA:33110
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Increased circulating IgE level, Perioral erythema, Erythroderma, Villous at... OMIM:614328
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Abnormal erythrocyte morphology, Wide nasal bridge, Folate-unresponsive meg... ORPHA:2575
Hennekam-Beemer Syndrome
Pruritus, Pneumonia, Respiratory insufficiency, Erythema, Vomiting, High palate, Wide nose, Upsla... ORPHA:2135
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Hepatomegaly, Abnorm... ORPHA:100024
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Skin ulcer,... ORPHA:69126
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Histiocytosis, Increased circulating antibody level, Pulmonary infiltrates OMIM:235900
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Carpal bone hypoplasia, Anemia, Edema of the dorsum of feet, Eosinophilia,... OMIM:274000
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring al... OMIM:602540
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Ichthyosis, Abnormality of the nail, Palmoplantar keratoderma, Ectropion, Erythroderma,... ORPHA:79394
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Ichthyosis, Growth delay, Upslanted palpebral fissure, Cholestasis, Hepatic fibrosis, ... OMIM:609313
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Growth delay, Flexion contracture, Scaling skin, Erythema, Asthma, Dr... OMIM:614457
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Cough, Panhypogammaglob... ORPHA:79124
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormality of the nail, Epiphyseal stippling, Congenital hip dislocation, Hyperkeratosis, Flexio... OMIM:308050
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Acanthosis nigricans, Increased circulating antibody le... OMIM:617591
Acrodermatitis Enteropathica
Ridged nail, Ridged fingernail, Weight loss, Erythema, Anorexia, Abnormality of the tongue, Gloss... ORPHA:37
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ichthyosis, Arthrogryposis multiplex congenita, Narrow mouth, Open mouth, Cardiom... OMIM:608013
Majeed Syndrome
Cough, Weight loss, Increased bone mineral density, Increased susceptibility to fractures, Osteom... ORPHA:77297
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhyp... OMIM:601457
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Erythroderma, Hepatomegaly, Thickened skin, Leukemia, Mala... ORPHA:79456
Trichothiodystrophy
Enamel hypoplasia, Ichthyosis, Prematurely aged appearance, Craniosynostosis, Carious teeth, Ridg... ORPHA:33364
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Growth delay, Epicanthus, Pneumonia, High palat... OMIM:614069
Rothmund-Thomson Syndrome Type 1
Carious teeth, Nasogastric tube feeding, Abnormal dental enamel morphology, Neutropenia, Facial e... ORPHA:221008
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Open bite, Ichthyosis, Bulbous nose, Open mouth, Palpebral thickening, Absent eye... OMIM:115150
X-Linked Dominant Chondrodysplasia Punctata
Rhizomelia, Scarring alopecia of scalp, Epicanthus, Abnormality of the dentition, Erythema, Conge... ORPHA:35173
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Common Variable Immunodeficiency
Bronchiectasis, Pneumonia, Failure to thrive in infancy, Otitis media, Lymphadenopathy, Autoimmun... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema ORPHA:2337
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Ataxia-Telangiectasia
Hypopigmentation of hair, Prematurely aged appearance, Elevated hepatic transaminase, Premature g... ORPHA:100
Dermatitis, Atopic
Pruritus, Ichthyosis, Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Asth... OMIM:603165
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Urticaria, Villous atrophy, Pancytopenia, Reduce... OMIM:616050
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Cough, Pericardial effusion, Diarrhea, Lymphadenopathy, Uveitis, Ascites, Na... ORPHA:36412
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Pfapa Syndrome
Abnormal oral cavity morphology, Abdominal pain, Weight loss, Hepatomegaly, Encephalitis, Splenom... ORPHA:42642
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Carious teeth, Facial erythema, Palmoplantar keratoderma, Scarri... OMIM:612843
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Oral ulcer, Decreased circulating antibody level, Uveitis,... OMIM:615122
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukonychia, Scaling skin, Erysipelas, Abnormal toenail morphology, Wide nose, Long philtrum, Abn... ORPHA:2526
Waldenström Macroglobulinemia
Cryoglobulinemia, Respiratory insufficiency, Anorexia, Diarrhea, Cutis marmorata, Periorbital ede... ORPHA:33226
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Primary Sclerosing Cholangitis
Pruritus, Polyclonal elevation of IgM, Thyroiditis, Weight loss, Jaundice, Palmar telangiectasia,... ORPHA:171
Ectodermal Dysplasia-Skin Fragility Syndrome
Pruritus, Chapped lip, Abnormal tongue morphology, Carious teeth, Sparse hair, Palmoplantar kerat... ORPHA:158668
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Open mouth, Protuberant abdomen, Curly hair, Wide mouth, Lactose intolerance, Decr... ORPHA:457485
Eosinophilic Fasciitis
Acrocyanosis, Muscular edema, Weight loss, Edema, Myositis, Fasciitis, Abnormal eosinophil morpho... ORPHA:3165
Noonan Syndrome 8
Polyhydramnios, Feeding difficulties, Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Pleura... OMIM:615355
Ichthyosis-Prematurity Syndrome
Desquamation of skin soon after birth, Neonatal respiratory distress, Ichthyosis, Eosinophilia ORPHA:88621
Hereditary Acrokeratotic Poikiloderma
Open bite, Ichthyosis, Narrow mouth, Thin skin, Erythema, Xerostomia, Eczema, Gingivitis, Abnorma... ORPHA:2907
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Osteolysis, Sparse hair, Palmoplantar keratoderma, Anky... ORPHA:659
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Abnormality of the dentition, Palmar hyperkeratosis, Oral mucosal blist... ORPHA:79399
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Abdominal pain, Increased circu... ORPHA:449400
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Edema, Urticaria, Cutaneous mastocytosis OMIM:154800
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Lymphedema, Chronic otitis media, Bruising susceptibil... ORPHA:3226
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Xq28 (MECP2) duplication
Narrow mouth, Drooling, Dysphagia, Constipation, Gastroesophageal reflux, Decreased circulating I... DECIPHER:45
Hodgkin Lymphoma
Pruritus, Dyspnea, Cough, Weight loss, Anorexia, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphade... ORPHA:98293
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Diarrhea, Agammaglobulinemia, Failure ... OMIM:613501
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Odontoonychodermal Dysplasia
Hypergranulosis, Dry hair, Sparse hair, Anonychia, Agenesis of permanent teeth, Abnormality of pr... OMIM:257980
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoi... OMIM:259710
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:607602
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Craniosynostosis, Bulbous nose, Narrow mouth, Open mouth, Decreased proportion of... ORPHA:508533
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Synophrys, Decreased circulating IgA level, Decreased circulating total IgM, Decreased... OMIM:300861
Pitt-Hopkins Syndrome
Sleep apnea, Postnatal growth retardation, Acrocyanosis, Constipation, Gastroesophageal reflux, U... ORPHA:2896