Gene Summary

Name:
arachidonate lipoxygenase 3
Synonyms:
e-LOX-3

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Aloxe3em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Aloxe3em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Aloxe3em1(IMPC)Mbp HET E15.5 0.00
small spleen Aloxe3em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Aloxe3em1(IMPC)Mbp HOM E15.5 0.00
hemorrhage Aloxe3em1(IMPC)Mbp HET E15.5 0.00
enlarged lymph nodes Aloxe3em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Aloxe3em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Aloxe3em1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

14 Images

Human diseases caused by Aloxe3 mutations

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

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

The table below shows human diseases associated to Aloxe3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Dehydration, Erythroderma, Pruritus ORPHA:313
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Congenital Ichthyosiform Erythroderma
Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus ORPHA:79394

The table below shows human diseases predicted to be associated to Aloxe3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Aquagenic Palmoplantar Keratoderma
Palmar pruritus, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Edema ORPHA:498359
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Kerion Celsi
Lymphadenopathy ORPHA:499
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroderma, Weight l... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:617571
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:617526
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ulerythema Ophryogenesis
Contact dermatitis, Miscarriage, Acne, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:3406
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting... ORPHA:79147
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:89838
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Hyperkeratosis, Pruritus, Plantar hyperkeratosis ORPHA:79399
Moynahan Syndrome
Cachexia, Hyperkeratosis ORPHA:2574
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... OMIM:620014
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... OMIM:601952
Ichthyosis With Erythrokeratoderma
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Hyperk... OMIM:620507
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra... ORPHA:2199
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... ORPHA:79395
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Pustule, Polyhydramnios, Dehydration OMIM:616069
Reticular Dysgenesis
Failure to thrive, Skin rash, Dehydration, Weight loss ORPHA:33355
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Dehydration, Erythroderma, Pruritus ORPHA:313
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Bazex Syndrome
Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar keratoderma, Edema, Pruritus ORPHA:166113
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:618546
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis OMIM:613943
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Nanophthalmos 4
Microphthalmia OMIM:615972
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Ascites, Weight loss ORPHA:2198
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplanta... OMIM:300918
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Nanophthalmos
Microphthalmia ORPHA:35612
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkera... OMIM:602540
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Failure to thrive, Increased circulating 18-hydroxyco... OMIM:610600
Transient Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Small for gestational age ORPHA:99886
Chilblain Lupus
Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality of the skin, ... ORPHA:90280
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Weight loss ORPHA:103910
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Palmar pruritus, Pruritus on foot, Increased body weight, Eczematoid dermatitis, P... ORPHA:64745
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar... OMIM:619208
Pityriasis Rubra Pilaris
Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pustule, Subungual hyperkeratosi... ORPHA:2897
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly... OMIM:603552
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Palmoplantar Keratoderma, Epidermolytic, 1
Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant... OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Congenital nonbullous ichthy... OMIM:612281
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Erythroderma, Pruritus, Follicular hyperkeratosis OMIM:608649
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... OMIM:615023
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, ... OMIM:615522
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Classic Mycosis Fungoides
Hyperkeratosis, Skin rash, Eczematoid dermatitis, Edema, Pruritus ORPHA:2584
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:607936
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Orthokeratosis, Hypergranulosis OMIM:617525
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis OMIM:618084
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis OMIM:247100
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl... OMIM:148700
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss, Skin rash ORPHA:317
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Pulmonary Blastoma
Weight loss ORPHA:64741
Netherton Syndrome
Parakeratosis, Eczematoid dermatitis, Angioedema, Failure to thrive, Congenital nonbullous ichthy... OMIM:256500
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, W... ORPHA:171876
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Congenital Short Bowel Syndrome
Failure to thrive, Steatorrhea, Dehydration OMIM:615237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:613101
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule OMIM:146590
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Parakeratosis, Pruritus, Atopic dermatitis ORPHA:90368
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp... OMIM:618534
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration, Hyperaldosteronism OMIM:264350
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticoster... ORPHA:556030
Ichthyosis, Annular Epidermolytic, 2
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis OMIM:620148
Netherton Syndrome
Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Eczematoid dermatitis, Congenital nonbu... ORPHA:634
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Pruritus OMIM:615821
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerat... OMIM:604777
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... OMIM:614594
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration OMIM:143860
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Immunodeficiency 27A
Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyper... OMIM:607602
Meige Disease
Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleural effusion, ... ORPHA:90186
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Death in childhood, Dehydration, Death in adolescence OMIM:560000
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosi... OMIM:242300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration, Hyperaldosteronism OMIM:177735
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:613576
Familial Renal Glucosuria
Dehydration ORPHA:69076
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ... OMIM:602450
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Death in childhood, Dehydration, Small for gestational age OMIM:214150
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema ORPHA:79452
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Familial Cold Urticaria
Dehydration, Pruritus ORPHA:47045
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus ORPHA:254478
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration, Hyperaldosteronism OMIM:620126
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ichthyosis, Dehydration, Death in infancy, Failure to thrive, Oligohydramnios, Small for gestatio... OMIM:208085
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration, Hyperaldosteronism OMIM:620125
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration ORPHA:79312
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Enteric Anendocrinosis
Dehydration ORPHA:83620
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Ramon Syndrome
Failure to thrive, Hyperkeratosis ORPHA:3019
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Death in infancy, Failure to thrive, Inflammatory abnormality of the ... OMIM:610768
Autosomal Agammaglobulinemia
Failure to thrive, Skin rash, Dehydration, Recurrent skin infections ORPHA:33110
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Bathing Suit Ichthyosis
Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform erythroderma, Palm... ORPHA:100976
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Noonan Syndrome 8
Large for gestational age, Polyhydramnios, Hyperkeratosis, Pleural effusion, Eczematoid dermatiti... OMIM:615355
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Darier Disease
Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Pruritus, Subungual hyperkeratotic fragm... ORPHA:218
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Congenital Tufting Enteropathy
Failure to thrive, Steatorrhea, Dehydration, Weight loss ORPHA:92050
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Secondary Short Bowel Syndrome
Failure to thrive, Steatorrhea, Dehydration, Weight loss ORPHA:95427
Idiopathic Achalasia
Weight loss ORPHA:930
Insulin Autoimmune Syndrome
Acanthosis nigricans, Weight loss ORPHA:411593
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Failure to thrive, Palmoplantar keratoderma, Recurrent... OMIM:615508
Mmep Syndrome
Microphthalmia ORPHA:3434
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis, Ichthyosis, Edema ORPHA:455
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus ORPHA:83453
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Failure to thrive, Hyperkeratosis, Death in childhood OMIM:301108
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Adrenal Hypoplasia, Congenital
Failure to thrive, Decreased circulating cortisol level, Dehydration OMIM:300200
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration OMIM:212140
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal... OMIM:615122
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Chromomycosis
Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Edema, Hyper... ORPHA:182
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Ichthyosis, Congenital, Autosomal Recessive 4B
Congenital ichthyosiform erythroderma, Failure to thrive, Neonatal death, Death in infancy OMIM:242500
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Death in childhood, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:614457
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis ORPHA:816
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Polyhydramnios, Dehydration, Hyperaldosteronism OMIM:214700
Propionic Acidemia
Failure to thrive, Dehydration, Eczematoid dermatitis OMIM:606054
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hyperkeratosis, Ichthyosis, Eczematoid dermatitis OMIM:612379
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Atopic dermatitis OMIM:620483
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive, Hyperkeratosis, Death in infancy OMIM:609180
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Lichen Planopilaris
Hyperkeratosis, Pruritus ORPHA:525
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Pruritus, Follicular hyperker... OMIM:616295
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i... OMIM:603909
Proteus Syndrome
Hyperkeratosis OMIM:176920
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Isovaleric Acidemia
Dehydration OMIM:243500
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus ORPHA:158681
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ... OMIM:301078
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis OMIM:104100
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Pustule, Acne ORPHA:530
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Xerostomia OMIM:618527
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abn... ORPHA:83469
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hyperkeratosis OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:602400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:242100
Huntington Disease-Like 2
Weight loss ORPHA:98934
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar kerato... ORPHA:189
Osteootohepatoenteric Syndrome
Failure to thrive, Dehydration, Pruritus, Weight loss OMIM:619377
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Dowling-Degos Disease
Hyperkeratosis, Pruritus, Hyperkeratotic papule, Acne inversa ORPHA:79145
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut... ORPHA:284426
Cystinosis
Failure to thrive, Dehydration ORPHA:213
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis, Skin rash, Pustule, Joint swelling, Failure to thrive in infancy OMIM:612852
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:224750
Acquired Hypertrichosis Lanuginosa
Thickened skin, Ichthyosis, Acanthosis nigricans, Weight loss ORPHA:2221
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Malignant Peritoneal Mesothelioma
Pedal edema, Ascites, Weight loss ORPHA:168811
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Microvillus Inclusion Disease
Dehydration, Pruritus ORPHA:2290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Weight loss ORPHA:704
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Cachexia, Dehydration, Ascites, Failure to thrive... ORPHA:275761
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Thymic Carcinoma
Edema, Palpebral edema, Weight loss ORPHA:99868
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis OMIM:617337
Beta-Ketothiolase Deficiency
Edema, Dehydration, Weight loss ORPHA:134
Isaacs Syndrome
Weight loss ORPHA:84142
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocyt... ORPHA:457077
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, T... ORPHA:381
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ichthyosis, Hyperkeratosis, Decreased body weight, Ascites, Neonatal death, Nonim... OMIM:608013
Eosinophilic Gastroenteritis
Steatorrhea, Ascites, Atopic dermatitis, Weight loss, Edema ORPHA:2070
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hyperkeratosis, Peau d'orange, Death in infancy OMIM:614576
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Cachexia, Thickened skin, Weight loss ORPHA:1979
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Eosinophilic Fasciitis
Edema, Muscular edema, Weight loss ORPHA:3165
Pachyonychia Congenita
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Failure to t... ORPHA:2309
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypertonic dehydration OMIM:304800
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Wolcott-Rallison Syndrome
Decreased body weight, Ascites, Dehydration ORPHA:1667
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Subacute Cutaneous Lupus Erythematosus
Malar rash, Hyperkeratosis, Discoid lupus rash ORPHA:163525
Congenital Ichthyosiform Erythroderma
Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus ORPHA:79394
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal... OMIM:257200
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Folliculitis, Follicular hyperkeratosis OMIM:308800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema ORPHA:398124
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized ichthyosis, Generalized hyperkeratosis ORPHA:2269
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Pachyonychia Congenita 3
Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ... OMIM:615726
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Follicular hyperkeratosis ORPHA:486815
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Boutonneuse Fever
Thrombocytopenia, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy ORPHA:83313
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature ORPHA:290
Bullous Pemphigoid
Psoriasiform dermatitis, Pruritus, Weight loss, Eczematoid dermatitis ORPHA:703
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Skin rash, Palmoplantar pustulosis, Weight loss, Acne, Edema, Psoriasiform dermatitis, Pruritus ORPHA:324964
Monilethrix
Follicular hyperkeratosis ORPHA:573
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Papa Syndrome
Lymphadenopathy ORPHA:69126
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Renal Hypoplasia
Dehydration, Small for gestational age ORPHA:93101
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Costello Syndrome
Failure to thrive in infancy, Hyperkeratosis, Polyhydramnios, Acanthosis nigricans ORPHA:3071
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hydrops fetalis, Death in childhood, Dehydration, Failure to thrive, Small for gesta... OMIM:557000
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration OMIM:251110
Poikiloderma With Neutropenia
Hyperkeratosis, Skin rash, Palmoplantar keratoderma, Edema, Plantar hyperkeratosis OMIM:604173
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Decreased circulating cortisol level, Dehydration ORPHA:90791