MCID: JVN024
MIFTS: 22

Juvenile Hereditary Hemochromatosis

Categories: Metabolic diseases, Rare diseases, Liver diseases, Genetic diseases

Aliases & Classifications for Juvenile Hereditary Hemochromatosis

MalaCards integrated aliases for Juvenile Hereditary Hemochromatosis:

Name: Juvenile Hereditary Hemochromatosis 23
Hemochromatosis 23 69
Hemochromatosis, Type 1 69
Type 2 23

Classifications:



External Ids:

UMLS 69 C3469186

Summaries for Juvenile Hereditary Hemochromatosis

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MalaCards based summary : Juvenile Hereditary Hemochromatosis, also known as hemochromatosis, is related to griscelli syndrome, type 2 and von willebrand disease, type 2, and has symptoms including gastrointestinal gas, nausea and vomiting and icterus.

GeneReviews: NBK1170

Related Diseases for Juvenile Hereditary Hemochromatosis

Diseases in the Juvenile Hereditary Hemochromatosis family:

Hemochromatosis, Type 1 Hemochromatosis, Type 2a
Hemochromatosis, Type 3 Hemochromatosis, Type 4
Hemochromatosis, Type 2b Hemochromatosis, Type 5
Hemochromatosis Type 2

Diseases related to Juvenile Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 12.1
2 von willebrand disease, type 2 12.1
3 episodic ataxia, type 2 12.1
4 generalized epilepsy with febrile seizures plus, type 2 12.0
5 hemochromatosis type 2 12.0
6 kenny-caffey syndrome, type 2 12.0
7 spinocerebellar ataxia with axonal neuropathy type 2 12.0
8 immunodeficiency with hyper-igm, type 2 12.0
9 human t-cell leukemia virus type 2 12.0
10 lipodystrophy, familial partial, type 2 12.0
11 ehlers-danlos syndrome, spondylodysplastic type, 2 11.9
12 lipodystrophy, congenital generalized, type 2 11.9
13 maturity-onset diabetes of the young, type 2 11.9
14 dentinogenesis imperfecta type 2 11.9
15 rhizomelic chondrodysplasia punctata, type 2 11.9
16 mitochondrial complex iii deficiency, nuclear type 2 11.9
17 ehlers-danlos syndrome, musculocontractural type, 2 11.9
18 congenital heart defects, multiple types, 2 11.9
19 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.9
20 diabetes mellitus, noninsulin-dependent 11.9
21 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.9
22 ehlers-danlos syndrome, periodontal type, 2 11.9
23 telangiectasia, hereditary hemorrhagic, type 2 11.9
24 congenital pulmonary airway malformation type 2 11.9
25 nephrotic syndrome, type 2 11.8
26 simpson-golabi-behmel syndrome, type 2 11.8
27 usher syndrome type 2 11.8
28 hypokalemic periodic paralysis, type 2 11.8
29 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.8
30 bartter syndrome, type 2, antenatal 11.8
31 autoimmune pancreatitis type 2 11.8
32 acquired angioedema type 2 11.8
33 axenfeld-rieger syndrome, type 2 11.7
34 spherocytosis, type 2 11.7
35 multiple endocrine neoplasia type 1 and type 2 11.7
36 meckel syndrome, type 2 11.7
37 van buchem disease, type 2 11.7
38 carney complex, type 2 11.7
39 colorectal cancer, hereditary nonpolyposis, type 2 11.7
40 mitochondrial complex v deficiency, nuclear type 2 11.7
41 waardenburg syndrome, type 2e 11.7
42 agammaglobulinemia, x-linked, type 2 11.7
43 camurati-engelmann disease, type 2 11.7
44 collagenopathy type 2 alpha 1 11.7
45 duane syndrome type 2 11.7
46 hereditary antithrombin deficiency type 2 11.7
47 spinal muscular atrophy with respiratory distress type 2 11.7
48 spinocerebellar ataxia 2 11.6
49 brachyolmia type 2 11.6
50 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.6

Graphical network of the top 20 diseases related to Juvenile Hereditary Hemochromatosis:



Diseases related to Juvenile Hereditary Hemochromatosis

Symptoms & Phenotypes for Juvenile Hereditary Hemochromatosis

UMLS symptoms related to Juvenile Hereditary Hemochromatosis:


gastrointestinal gas, nausea and vomiting, icterus, heartburn, dyspepsia, diarrhea, constipation, abdominal pain

Drugs & Therapeutics for Juvenile Hereditary Hemochromatosis

Search Clinical Trials , NIH Clinical Center for Juvenile Hereditary Hemochromatosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Juvenile Hereditary Hemochromatosis

Anatomical Context for Juvenile Hereditary Hemochromatosis

Publications for Juvenile Hereditary Hemochromatosis

Articles related to Juvenile Hereditary Hemochromatosis:

# Title Authors Year
1
Juvenile Hereditary Hemochromatosis ( 20301349 )
1993

Variations for Juvenile Hereditary Hemochromatosis

Expression for Juvenile Hereditary Hemochromatosis

Search GEO for disease gene expression data for Juvenile Hereditary Hemochromatosis.

Pathways for Juvenile Hereditary Hemochromatosis

GO Terms for Juvenile Hereditary Hemochromatosis

Sources for Juvenile Hereditary Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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