61 (71.0%)
|
autoimmune polyendocrine syndrome type 1
|
Anemia
Asplenia
Cholelithiasis
Diabetes mellitus
Autosomal dominant inheritance
Autosomal recessive inheritance
Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
OMIM:240300
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Monarch
KEGG:H01972
GTR:C0085859
|
62 (70.9%)
|
hemochromatosis type 2B
|
Anemia
Cirrhosis
Increased circulating ferritin concentration
Splenomegaly
Autosomal recessive inheritance
Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.
OMIM:613313
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Monarch
Gene Reviews
GTR:C1865616
|
62 (70.9%)
|
congenital dyserythropoietic anemia type 4
|
Anemia of inadequate production
Hepatomegaly
Hydrops fetalis
Reticulocytosis
Splenomegaly
Autosomal dominant inheritance
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
OMIM:613673
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Monarch
GTR:C3150926
|
62 (70.9%)
|
congenital neutropenia-myelofibrosis-nephromegaly syndrome
|
Anemia
Hepatomegaly
Increased circulating antibody level
Splenomegaly
Autosomal recessive inheritance
OMIM:615285
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Monarch
GTR:C3809031
|
62 (70.9%)
|
autoimmune lymphoproliferative syndrome type 4
|
Decreased lymphocyte apoptosis
Hemolytic anemia
Hepatomegaly
Splenomegaly
Autosomal dominant inheritance
Somatic mutation
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
OMIM:614470
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Monarch
GTR:C2674723
|
62 (70.9%)
|
Omenn syndrome
|
Anemia
Hepatomegaly
Hypoproteinemia
Splenomegaly
Autosomal recessive inheritance
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
OMIM:603554
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Monarch
GTR:C1801959
|
62 (70.9%)
|
familial hemophagocytic lymphohistiocytosis 4
|
Anemia
Fever
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.
OMIM:603552
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Monarch
Gene Reviews
|
62 (70.9%)
|
autosomal recessive osteopetrosis 7
|
Anemia
Hepatomegaly
Hypocalcemic seizures
Splenomegaly
Autosomal recessive inheritance
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.
OMIM:612301
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Monarch
GTR:C2676766
|
62 (70.9%)
|
immunodeficiency 27A
|
Anemia
Fever
Hepatosplenomegaly
Splenomegaly
Autosomal recessive inheritance
OMIM:209950
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Monarch
GTR:C4011949
|
62 (70.9%)
|
neonatal severe primary hyperparathyroidism
|
Anemia
Hepatomegaly
Hypophosphatemia
Splenomegaly
Autosomal dominant inheritance
Autosomal recessive inheritance
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
OMIM:239200
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Monarch
KEGG:H02030
GTR:C1832615
|
62 (70.9%)
|
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
|
Autoimmune hemolytic anemia
Decreased circulating antibody level
Hepatomegaly
Splenomegaly
Autosomal dominant inheritance
A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
OMIM:616100
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Monarch
GTR:C4015214
|
62 (70.9%)
|
proteasome-associated autoinflammatory syndrome 3
|
Anemia
Hepatomegaly
Recurrent fever
Splenomegaly
Autosomal recessive inheritance
OMIM:617591
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Monarch
|
62 (70.9%)
|
X-linked lymphoproliferative disease due to SH2D1A deficiency
|
Anemia
Hepatomegaly
Increased circulating IgM level
Splenomegaly
X-linked recessive inheritance
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.
OMIM:308240
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Monarch
KEGG:H01969
Gene Reviews
|
62 (70.9%)
|
lymphoproliferative syndrome 1
|
Anemia
Elevated erythrocyte sedimentation rate
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..
OMIM:613011
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Monarch
KEGG:H01970
GTR:C3552634
|
62 (70.9%)
|
autosomal recessive osteopetrosis 1
|
Anemia
Elevated alkaline phosphatase
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Heterogeneous
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.
OMIM:259700
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Monarch
|
62 (70.9%)
|
hyper-IgM syndrome type 1
|
Decreased circulating IgA level
Hemolytic anemia
Hepatomegaly
Splenomegaly
X-linked recessive inheritance
Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
OMIM:308230
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Monarch
KEGG:H00093
Gene Reviews
GTR:C0398689
|
62 (70.9%)
|
adenosine deaminase deficiency
|
Autoimmune hemolytic anemia
Decreased circulating IgA level
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Somatic mosaicism
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
OMIM:102700
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Monarch
KEGG:H00092
KEGG:H02309
Gene Reviews
|
62 (70.9%)
|
immunodeficiency due to CD25 deficiency
|
Autoimmune hemolytic anemia
Diabetes mellitus
Hepatosplenomegaly
Splenomegaly
Autosomal recessive inheritance
OMIM:606367
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Monarch
GTR:C1853392
|
62 (70.9%)
|
lysinuric protein intolerance
|
Anemia
Hepatomegaly
Hyperammonemia
Splenomegaly
Autosomal recessive inheritance
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
OMIM:222700
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Monarch
KEGG:H00899
Gene Reviews
GTR:C0268647
|
62 (70.9%)
|
autosomal recessive osteopetrosis 5
|
Anemia
Hepatomegaly
Hypocalcemia
Splenomegaly
Autosomal recessive inheritance
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.
OMIM:259720
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Monarch
|
62 (70.9%)
|
mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
|
Anemia
Macrovesicular hepatic steatosis
Proteinuria
Splenomegaly
Autosomal recessive inheritance
OMIM:617303
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Monarch
KEGG:H02205
GTR:C4310627
|
62 (70.9%)
|
mevalonic aciduria
|
Edema
Elevated hepatic transaminase
Fluctuating splenomegaly
Normocytic hypoplastic anemia
Autosomal recessive inheritance
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
OMIM:610377
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Monarch
GTR:C1959626
|
83 (70.8%)
|
autoinflammation with arthritis and dyskeratosis
|
Autoimmune hemolytic anemia
Dry skin
Increased circulating IgA level
Splenomegaly
Autosomal dominant inheritance
Autosomal recessive inheritance
OMIM:617388
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Monarch
|
84 (69.7%)
|
MIRAGE syndrome
|
Anemia
Hypoglycemia
Hypoplastic spleen
Petechiae
Autosomal dominant inheritance
An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.
OMIM:617053
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Monarch
GTR:C4284088
|
85 (69.6%)
|
trimethylaminuria (disease)
|
Anemia
Splenomegaly
Trimethylaminuria
Autosomal recessive inheritance
OMIM:602079
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Monarch
KEGG:H01234
Gene Reviews
GTR:C0342739
|
85 (69.6%)
|
severe combined immunodeficiency due to LAT deficiency
|
Decreased circulating antibody level
Hemolytic anemia
Splenomegaly
Autosomal recessive inheritance
OMIM:617514
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Monarch
GTR:C4479588
|
85 (69.6%)
|
purine nucleoside phosphorylase deficiency
|
Autoimmune hemolytic anemia
Hypouricemia
Splenomegaly
Autosomal recessive inheritance
Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
OMIM:613179
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Monarch
GTR:C0268125
|
88 (69.3%)
|
hemolytic uremic syndrome, atypical, susceptibility to, 1
|
Fever
Microangiopathic hemolytic anemia
Purpura
Schistocytosis
Autosomal dominant inheritance
Autosomal recessive inheritance
OMIM:235400
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Monarch
KEGG:H01434
Gene Reviews
|
89 (68.7%)
|
hemoglobin H disease
|
Hemolytic anemia
Hepatomegaly
Splenomegaly
Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.
OMIM:613978
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Monarch
GTR:C3161174
|
89 (68.7%)
|
osteopetrosis, autosomal dominant 3
|
Anemia
Hepatomegaly
Osteopenia
Splenomegaly
Autosomal dominant inheritance
OMIM:618107
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Monarch
|
89 (68.7%)
|
autosomal recessive osteopetrosis 8
|
Anemia
Hepatomegaly
Macrocephaly
Splenomegaly
Autosomal recessive inheritance
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.
OMIM:615085
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Monarch
GTR:C3554478
|
89 (68.7%)
|
autosomal recessive osteopetrosis 4
|
Anemia
Hepatosplenomegaly
Splenomegaly
Visual impairment
Autosomal recessive inheritance
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.
OMIM:611490
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Monarch
Gene Reviews
|
89 (68.7%)
|
Gaucher disease type I
|
Anemia
Epistaxis
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
OMIM:230800
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Monarch
KEGG:H00126
Gene Reviews
|
89 (68.7%)
|
Gaucher disease type II
|
Anemia
Hepatomegaly
Splenomegaly
Trismus
Autosomal recessive inheritance
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
OMIM:230900
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Monarch
Gene Reviews
|
89 (68.7%)
|
autoimmune lymphoproliferative syndrome type 3
|
Hemolytic anemia
Hepatomegaly
Nephrotic syndrome
Splenomegaly
Autosomal recessive inheritance
A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
OMIM:615559
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Monarch
GTR:C1519711
GTR:C3809928
|
89 (68.7%)
|
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
Anemia
Cryptorchidism
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
OMIM:612541
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Monarch
KEGG:H00939
Gene Reviews
GTR:C2675526
|
97 (68.1%)
|
heme oxygenase 1 deficiency
|
Hemolytic anemia
Hepatomegaly
Proteinuria
Autosomal recessive inheritance
OMIM:614034
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Monarch
GTR:C1841651
|
97 (68.1%)
|
thanatophoric dysplasia, Glasgow variant
|
Abnormality of metabolism/homeostasis
Anemia
Hepatosplenomegaly
Autosomal recessive inheritance
OMIM:273680
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Monarch
GTR:C1848865
|
97 (68.1%)
|
familial hemophagocytic lymphohistiocytosis 3
|
Anemia
Fever
Hepatosplenomegaly
Autosomal recessive inheritance
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.
OMIM:608898
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Monarch
Gene Reviews
|
97 (68.1%)
|
renal tubular acidosis, distal, 4, with hemolytic anemia
|
Hemolytic anemia
Hepatosplenomegaly
Metabolic acidosis
Autosomal dominant inheritance
Autosomal recessive inheritance
Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.
OMIM:611590
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Monarch
GTR:C1969038
|
97 (68.1%)
|
autosomal recessive osteopetrosis 3
|
Anemia
Elevated serum acid phosphatase
Hepatosplenomegaly
Autosomal recessive inheritance
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
OMIM:259730
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Monarch
KEGG:H00241
|
97 (68.1%)
|
classic galactosemia
|
Cirrhosis
Hemolytic anemia
Hepatomegaly
Metabolic acidosis
Autosomal recessive inheritance
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
OMIM:230400
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Monarch
KEGG:H00070
KEGG:H02008
Gene Reviews
|
97 (68.1%)
|
myopathy, lactic acidosis, and sideroblastic anemia 2
|
Hepatomegaly
Increased serum lactate
Sideroblastic anemia
Autosomal recessive inheritance
Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
OMIM:613561
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Monarch
GTR:C3150802
|
97 (68.1%)
|
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
|
Acidosis
Anemia
Cirrhosis
Hepatomegaly
Autosomal recessive inheritance
OMIM:615486
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Monarch
KEGG:H02124
GTR:C3809651
|
97 (68.1%)
|
infantile liver failure syndrome 1
|
Anemia
Hepatic steatosis
Hepatomegaly
Lactic acidosis
Autosomal recessive inheritance
Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
OMIM:615438
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Monarch
KEGG:H01367
GTR:C3809522
|
97 (68.1%)
|
protein-losing enteropathy (disease)
|
Hepatomegaly
Hypoalbuminemia
Iron deficiency anemia
Autosomal recessive inheritance
Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.
OMIM:226300
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Monarch
GTR:C0033680
|
97 (68.1%)
|
3-hydroxy-3-methylglutaric aciduria
|
Anemia
Hepatomegaly
Metabolic acidosis
Autosomal recessive inheritance
3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
OMIM:246450
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Monarch
KEGG:H00179
GTR:C0268601
GTR:C1533587
|
97 (68.1%)
|
mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
|
Hepatomegaly
Increased serum lactate
Microcytic anemia
Autosomal recessive inheritance
OMIM:251900
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Monarch
Gene Reviews
|
97 (68.1%)
|
Wilson disease
|
Cirrhosis
Hemolytic anemia
Hepatomegaly
Proteinuria
Autosomal recessive inheritance
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
OMIM:277900
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Monarch
KEGG:H00210
Gene Reviews
GTR:C0019202
|
97 (68.1%)
|
propionic acidemia
|
Anemia
Hepatomegaly
Metabolic acidosis
Autosomal recessive inheritance
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
OMIM:606054
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Monarch
KEGG:H00175
Gene Reviews
GTR:C0268579
|
97 (68.1%)
|
cytochrome-c oxidase deficiency disease
|
Anemia
Hepatomegaly
Proteinuria
Autosomal recessive inheritance
Heterogeneous
Mitochondrial inheritance
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
OMIM:220110
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Monarch
KEGG:H01368
Gene Reviews
GTR:C0268237
|
97 (68.1%)
|
autosomal dominant Aarskog syndrome
|
Cirrhosis
Hepatomegaly
Lymphedema
Macrocytic anemia
X-linked inheritance
Sex-limited autosomal dominant
OMIM:100050
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Monarch
|
97 (68.1%)
|
thrombocytopenia-absent radius syndrome
|
Anemia
Decreased circulating antibody level
Hepatosplenomegaly
Autosomal recessive inheritance
Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
OMIM:274000
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Monarch
KEGG:H01847
Gene Reviews
GTR:C0175703
|
114 (67.5%)
|
combined immunodeficiency due to OX40 deficiency
|
Coombs-positive hemolytic anemia
Splenomegaly
Autosomal recessive inheritance
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
OMIM:615593
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Monarch
GTR:C3810053
|
115 (67.3%)
|
vitamin B12-responsive methylmalonic acidemia type cblB
|
Anemia
Hepatomegaly
Methylmalonic acidemia
Autosomal recessive inheritance
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
OMIM:251110
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Monarch
Gene Reviews
GTR:C1855102
|
115 (67.3%)
|
vitamin B12-responsive methylmalonic acidemia type cblA
|
Anemia
Hepatomegaly
Methylmalonic acidemia
Autosomal recessive inheritance
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
OMIM:251100
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Monarch
Gene Reviews
GTR:C0342721
GTR:C0342722
GTR:C1855109
|
117 (67.3%)
|
autoimmune polyendocrinopathy type 2
|
Asplenia
Cirrhosis
Iron deficiency anemia
Type II diabetes mellitus
Autosomal dominant inheritance
Autosomal recessive inheritance
Multifactorial inheritance
Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.
OMIM:269200
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Monarch
|
118 (67.2%)
|
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
|
Cirrhosis
Hepatomegaly
Hyperbilirubinemia
Polycythemia
Autosomal recessive inheritance
OMIM:613280
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Monarch
KEGG:H01938
Gene Reviews
GTR:CN035550
|
119 (67.2%)
|
Stormorken syndrome
|
Anemia
Asplenia
Elevated serum creatine kinase
Ichthyosis
Autosomal dominant inheritance
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
OMIM:185070
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Monarch
KEGG:H02259
GTR:C1861451
|
120 (67.2%)
|
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
|
Acanthocytosis
Anemia of inadequate production
Epistaxis
Petechiae
X-linked recessive inheritance
An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
OMIM:300367
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Monarch
Gene Reviews
GTR:C3550789
|