MCID: HYP624
MIFTS: 22

Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

MalaCards integrated aliases for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase:

Name: Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 54 12 50 13
Psychomotor Retardation Due to S-Adenosylhomocysteine Hydrolase Deficiency 12 50 56
Hypermethioninemia Due to S-Adenosylhomocysteine Hydrolase Deficiency 12 50 56
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 24 71 29
Hmahchd 71

Characteristics:

Orphanet epidemiological data:

56
psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

NIH Rare Diseases : 50 hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency (sahh deficiency) is a muscle disease associated with high blood levels of methionine and creatine kinase (ck). the main symptoms are psychomotor delay, behavioral disorders, severe myopathy, and delayed myelination from birth. myelin is the layer covering the axons of nerves and plays an important role in nerve impulse conduction. sahh deficiency is caused by mutations in the ahcy gene. inheritance is autosomal recessive.  a methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development. the outcome depends upon the severity of the disease. last updated: 12/5/2016

MalaCards based summary : Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase, is also known as psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency, and has symptoms including failure to thrive, global developmental delay and intellectual disability. An important gene associated with Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase is AHCY (Adenosylhomocysteinase).

UniProtKB/Swiss-Prot : 71 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency: A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.

Disease Ontology : 12 A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.

Description from OMIM: 613752

Related Diseases for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Symptoms & Phenotypes for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Symptoms via clinical synopsis from OMIM:

54

Growth:
failure to thrive

Facies:
facial dysmorphism

Teeth:
abnormal teeth

Lab:
placental s-adenosylhomocysteine hydrolase deficiency
hypermethioninemia

Neuro:
mental and motor retardation

Hair:
abnormal hair

Cardiac:
myocardiopathy


Clinical features from OMIM:

613752

Human phenotypes related to Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 intellectual disability 32 HP:0001249
4 cardiomyopathy 32 HP:0001638
5 motor delay 32 HP:0001270
6 hypermethioninemia 32 HP:0003235
7 abnormal facial shape 32 HP:0001999
8 abnormality of the dentition 32 HP:0000164

Drugs & Therapeutics for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Search Clinical Trials , NIH Clinical Center for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase

Genetic Tests for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Genetic tests related to Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase:

id Genetic test Affiliating Genes
1 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 29 24 AHCY

Anatomical Context for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Publications for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Variations for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

UniProtKB/Swiss-Prot genetic disease variations for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase:

71
id Symbol AA change Variation ID SNP ID
1 AHCY p.Arg49Cys VAR_058588 rs369428934
2 AHCY p.Asp86Gly VAR_058589 rs773162208
3 AHCY p.Ala89Val VAR_058590 rs755222515
4 AHCY p.Tyr143Cys VAR_058591 rs121918608

ClinVar genetic disease variations for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AHCY NM_001161766.1(AHCY): c.252G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs121918607 GRCh37 Chromosome 20, 32880273: 32880273
2 AHCY NM_001161766.1(AHCY): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918608 GRCh37 Chromosome 20, 32880181: 32880181

Expression for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Search GEO for disease gene expression data for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase.

Pathways for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

GO Terms for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

Sources for Hypermethioninemia with Deficiency of S-Adenosylhomocysteine...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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