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Gene: Dlk1 MGI:94900

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Gene Summary

Name:
delta like non-canonical Notch ligand 1
Synonyms:
pref-1,  DlkI,  pG2,  SCP1,  ZOG,  Peg9,  FA1

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Dlk1em1(IMPC)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Dlk1em1(IMPC)Wtsi HOM   Early adult 8.85×10-06
increased total body fat amount Dlk1em1(IMPC)Wtsi HOM Early adult 6.59×10-06
decreased lean body mass Dlk1em1(IMPC)Wtsi HOM   Early adult 1.46×10-05
increased mean corpuscular hemoglobin Dlk1em1(IMPC)Wtsi HOM   Early adult 9.51×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

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6 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

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12 Images

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Legacy Phenotype Associated Images
Dlk1em1(IMPC)Wtsi
HOM, Male, WTSI
Dlk1em1(IMPC)Wtsi
WT, Female, WTSI
Dlk1em1(IMPC)Wtsi
HOM, Female, WTSI
Dlk1em1(IMPC)Wtsi
HOM, Female, WTSI
Dlk1em1(IMPC)Wtsi
HOM, Female, WTSI

View all 106 images

Dlk1em1(IMPC)Wtsi
asymmetric snout, head, abnormal snout morphology, WT, Female, WTSI
Dlk1em1(IMPC)Wtsi
head, abnormal snout morphology, upturned snout, WT, Female, WTSI
Dlk1em1(IMPC)Wtsi
head, asymmetric snout, abnormal snout morphology, WT, Female, WTSI
Dlk1em1(IMPC)Wtsi
corneal vascularization, HOM, Male, WTSI

Human diseases caused by Dlk1 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 Dlk1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia ORPHA:254531
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia, Short stature ORPHA:96184
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Omphalocele, Umbilical hernia, Postnatal gr... ORPHA:254534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... ORPHA:254528
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254525
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Prominent sternum, ... ORPHA:96334

The table below shows human diseases predicted to be associated to Dlk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:601859
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hep... OMIM:612526
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, Abnormality of humor... ORPHA:277
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... OMIM:614480
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:619868
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Morbid Obesity And Spermatogenic Failure
Infertility, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol con... OMIM:615703
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... OMIM:617514
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Lipoatrophy, Loss of gluteal subcutaneous adipo... ORPHA:280356
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Thick eyebrow, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, E... ORPHA:3268
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Lipodystrophy, Familial Partial, Type 4
Miscarriage, Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis OMIM:613877
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati... OMIM:619652
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated hepatic... OMIM:610717
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Ch... OMIM:617156
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita OMIM:611369
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Ci... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Gout, Hypercholesterolemia OMIM:610947
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... OMIM:616100
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion, Severe short stature, Short stature, Disproportionate short-trunk short stature, Deat... OMIM:277300
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Lipodystrophy, Hypertriglyceridemia, Increased intr... ORPHA:79085
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hyp... OMIM:617388
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature OMIM:609813
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Upslanted palpebral fissure, Posterior rib fusion, Abnormal rib morphology,... ORPHA:1797
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... OMIM:614878
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... ORPHA:435651
Macrocephaly/Autism Syndrome
Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia OMIM:605309
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Short stature, Abnormal rib morphology, Short thorax, Missing ribs, Block vertebrae, ... OMIM:613686
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... OMIM:613101
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Epicanthus, Hepatomegaly, Death in infancy OMIM:614882
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Irregular menstruation, Lipodystrophy, Hypertriglyceride... OMIM:615238
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Severe short-limb dwarfism, Hepatic steatosis ORPHA:436182
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Postnat... OMIM:617093
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... ORPHA:449400
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... OMIM:615816
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Decreased p... OMIM:301045
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Prim... OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating... OMIM:619048
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:232400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Lipoatrophy, Pectus carinatum, Supernumerary ribs ORPHA:64755
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Short stature, Posterior rib fusion, Epicanthus, ... OMIM:608406
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Inguinal hernia, Short stature, Upslanted palpebral fissure, Radiou... ORPHA:1988
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Disproportionate short-trunk short stature OMIM:608681
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spondylocostal Dysostosis 5
Severe short stature, Posterior rib fusion, Pectus carinatum, Disproportionate short-trunk short ... OMIM:122600
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly, Short stature OMIM:261750
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... ORPHA:33355
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Delayed cranial suture cl... ORPHA:2457
Hemochromatosis Type 4
Increased circulating ferritin concentration, Joint swelling, Joint dislocation, Cirrhosis, Conge... ORPHA:139491
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... OMIM:102700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Chronic decreased circulating total... OMIM:613496
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Short clavicles, G... OMIM:248370
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis,... OMIM:606069
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Hyperammonemia, Death in childh... OMIM:618641
Autosomal Recessive Multiple Pterygium Syndrome
Rib fusion, Intrauterine growth retardation, Pectus excavatum, Abnormal sternum morphology, Antec... ORPHA:2990
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... OMIM:300635
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Temple Syndrome
Flexion contracture, Short stature, Hypertriglyceridemia, Hypercholesterolemia, Intrauterine grow... OMIM:616222
Congenital Generalized Lipodystrophy
Amenorrhea, Hepatomegaly, Cirrhosis, Increased C-peptide level, Oligomenorrhea, Lipodystrophy, Hy... ORPHA:528
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia, Increased circulating IgE level OMIM:147060
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatomegaly, Loss... OMIM:151660
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Thick eyebrow, Short stature, Downslanted... ORPHA:1394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Congenital diaphragmatic hernia, Inguinal hernia, Short stature, Camptodactyly of fin... ORPHA:2311
Tularemia
Cutaneous abscess, Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal ad... ORPHA:3392
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Hepatic steatosis ORPHA:26792
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Downslanted palpebral fissures, Umbilical he... OMIM:265000
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short stature, Short ribs, Trident acetabulum, Horizontal ribs, D... OMIM:617405
Simple Cryoglobulinemia
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... ORPHA:91139
Myeloma, Multiple
Paraproteinemia OMIM:254500
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... ORPHA:562639
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Growth delay, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Irre... ORPHA:370
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Increased circulating I... OMIM:617303
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... ORPHA:443811
Microtriplication 11Q24.1
Hyperlipidemia, Thick eyebrow, Joint dislocation, Upslanted palpebral fissure, Short stature, Gen... ORPHA:289522
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Cirrhos... ORPHA:363400
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Complement deficiency, Eosino... ORPHA:449432
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Dysmenorrhea, Cirrhosis, Primary amenorrhe... ORPHA:79083
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Growth Hormone Insensitivity Syndrome
Short stature, Hypercholesterolemia, Hypogonadism ORPHA:181393
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Dysmenorrhea, Lipodystrophy, S... ORPHA:2348
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... ORPHA:90362
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Hepatomegaly, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis, Oligomenorrhea,... ORPHA:264580
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... OMIM:304790
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death OMIM:615918
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Death in infancy, Hypogonadism, Intrauterine gro... OMIM:608540
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Menometrorrhag... ORPHA:90970
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation OMIM:613861
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma, Oli... ORPHA:79240
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Hepatomegaly, Abnormality of the liver ORPHA:1980
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Hyperlipidemia, Flexion contracture, Loss of truncal subcutaneous adipose tissue... OMIM:608612
Lassa Fever
Jaundice, Increased circulating IgM level ORPHA:99824
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia ORPHA:254531
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:275
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hyperbilirubinemia, Hepatic fai... ORPHA:79303
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Acquired Partial Lipodystrophy
Lipoatrophy, Hepatic steatosis ORPHA:79087
Iga Pemphigus
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Hepatomegaly, Lymphopenia, Splenomegaly, Thrombocytopenia, ... OMIM:617591
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia... ORPHA:79124
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:255120
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... OMIM:602390
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Rift Valley Fever
Increased circulating IgG level, Hepatitis, Increased circulating IgM level, Anemia, Thrombocytop... ORPHA:319251
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Short stature, Splenomegaly, Decreased HDL... OMIM:607616
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... ORPHA:412
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbum... OMIM:619013
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... OMIM:614300
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Death in infancy, Di... ORPHA:1354
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Neonatal Severe Primary Hyperparathyroidism
Narrow chest, Short stature, Hepatomegaly, Splenomegaly ORPHA:417
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Primary Biliary Cholangitis
Increased circulating IgA level, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis... ORPHA:186
Cog4-Cdg
Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infancy, Hyp... ORPHA:263501
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature ORPHA:366
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thr... ORPHA:319218
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Narrow chest, Pectus excavatum, Bifid ribs, Thick eyebrow, Inguinal... OMIM:213980
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Mulibrey Nanism
Intrauterine growth retardation, Hepatomegaly, Short stature ORPHA:2576
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... ORPHA:297
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... OMIM:300972
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Laron Syndrome
Severe short stature, Osteoarthritis, Delayed puberty, Hypercholesterolemia, Abnormality of the e... ORPHA:633
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis, Short stature ORPHA:300536
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Growth delay, Hepatomegaly, Splenomegaly, Hypogonad... OMIM:615234
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia ORPHA:100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Brucellosis
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Increased circula... ORPHA:1304
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Absent eyebrow, Inguinal hernia, Sparse eyebrow, Sparse eyelashes, Downslanted palpeb... ORPHA:544488
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Igg4-Related Pachymeningitis
Pancreatitis, Complement deficiency, Lymphadenitis, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Kbg Syndrome
Rib fusion, Thick eyebrow, Short stature, Long palpebral fissure, Downslanted palpebral fissures,... OMIM:148050
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ... OMIM:260920
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Congenital Analbuminemia
Hyperlipidemia, Miscarriage, Hypoproteinemia, Increased alpha-globulin, Lipodystrophy, Hypoalbumi... ORPHA:86816
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis OMIM:215250
Lambert Syndrome
Decreased circulating antibody level, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Short stature ORPHA:364
Coccidioidomycosis
Pancreatitis, Peritonitis, Abscess, Eosinophilia, Increased circulating IgG level, Mediastinal ly... ORPHA:228123
Caffey Disease
Increased circulating antibody level ORPHA:1310
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Eosinophilia, Absc... ORPHA:400
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Death in childhood, Elevated circulating aspartate aminotransferase concentration, ... OMIM:614582
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Prolidase Deficiency
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, An... OMIM:170100
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary ... ORPHA:77259
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... ORPHA:280365
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Increased circulating IgM level,... ORPHA:505248
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Flat acetabular roof, Short thorax, Missing ri... ORPHA:1801
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma carnitine, Decrease... OMIM:212140
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Wilson Disease
Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Abnormality of the ... ORPHA:905
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Mono... ORPHA:33226
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Hepatomegaly, Micronodular cirrhosis, Short stature, Abnormal circulating creatine kin... ORPHA:98907
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Aicardi Syndrome
Bifid ribs, Rib fusion, Lipoma, Hiatus hernia, Hepatoblastoma, Postnatal growth retardation, Miss... OMIM:304050
Aicardi Syndrome
Bifid ribs, Rib fusion, Hiatus hernia, Hepatoblastoma, Multiple lipomas, Missing ribs, Delayed pu... ORPHA:50
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Ectropion, Viral hepatitis, Perip... ORPHA:101330
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Abnormal ... ORPHA:474
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Splenomegaly, Hypertr... OMIM:603552
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Death in infancy, Splenomegaly ORPHA:139406
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Gout, Enlarg... OMIM:232200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Retroperiton... ORPHA:79078
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Death in childhood, Abnormal thorax morphology, Epicanthus, Conjugate... OMIM:269920
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Hypersplenism, Ptosis OMIM:610539
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Craniosynostosis, Epicanthus, Synophrys, Arthrogryposis multiplex congenita, Hepa... ORPHA:254346
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly ORPHA:353298
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Death in childhood, Elevated hepatic transaminase, Long eyelashes,... OMIM:619064
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Death in adolescence, Neonatal death, Camptodactyly, Stillbirth,... OMIM:619751