MCID: HYP814
MIFTS: 20

Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency

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

Aliases & Classifications for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

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

Name: Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 57 75 29 6 40
Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 57 12 53 13
Psychomotor Retardation Due to S-Adenosylhomocysteine Hydrolase Deficiency 12 53 59
Hypermethioninemia Due to S-Adenosylhomocysteine Hydrolase Deficiency 12 53 59
Hmahchd 75

Characteristics:

Orphanet epidemiological data:

59
psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 613752
Disease Ontology 12 DOID:0111039
ICD10 33 E72.1
Orphanet 59 ORPHA88618
UMLS via Orphanet 74 C3151058
ICD10 via Orphanet 34 E72.1
MedGen 42 C3151058
MeSH 44 D000592

Summaries for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency, is also known as hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase. An important gene associated with Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency is AHCY (Adenosylhomocysteinase). Related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot : 75 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 S-Adenosylhomocysteine Hydrolase...

Symptoms & Phenotypes for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

Symptoms via clinical synopsis from OMIM:

57
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 S-Adenosylhomocysteine Hydrolase Deficiency:

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

Drugs & Therapeutics for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

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

Genetic Tests for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

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

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

Anatomical Context for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

Publications for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

Variations for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

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

75
# 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 S-Adenosylhomocysteine Hydrolase Deficiency:

6
(show all 18)
# 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.252G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs121918607 GRCh38 Chromosome 20, 34292467: 34292467
3 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh37 Chromosome 20, 32880181: 32880181
4 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh38 Chromosome 20, 34292375: 34292375
5 AHCY NM_000687.3(AHCY): c.-34C> T single nucleotide variant Benign/Likely benign rs57344541 GRCh38 Chromosome 20, 34303304: 34303304
6 AHCY NM_000687.3(AHCY): c.-34C> T single nucleotide variant Benign/Likely benign rs57344541 GRCh37 Chromosome 20, 32891110: 32891110
7 AHCY NM_000687.3(AHCY): c.28+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201479827 GRCh38 Chromosome 20, 34303236: 34303236
8 AHCY NM_000687.3(AHCY): c.28+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201479827 GRCh37 Chromosome 20, 32891042: 32891042
9 AHCY NM_000687.3(AHCY): c.973-7C> T single nucleotide variant Benign rs17091705 GRCh37 Chromosome 20, 32873447: 32873447
10 AHCY NM_000687.3(AHCY): c.973-7C> T single nucleotide variant Benign rs17091705 GRCh38 Chromosome 20, 34285641: 34285641
11 AHCY NM_000687.3(AHCY): c.767-37C> G single nucleotide variant Benign rs7271501 GRCh37 Chromosome 20, 32878481: 32878481
12 AHCY NM_000687.3(AHCY): c.767-37C> G single nucleotide variant Benign rs7271501 GRCh38 Chromosome 20, 34290675: 34290675
13 AHCY NM_000687.3(AHCY): c.112C> T (p.Arg38Trp) single nucleotide variant Benign rs13043752 GRCh37 Chromosome 20, 32883308: 32883308
14 AHCY NM_000687.3(AHCY): c.112C> T (p.Arg38Trp) single nucleotide variant Benign rs13043752 GRCh38 Chromosome 20, 34295502: 34295502
15 AHCY NM_000687.3(AHCY): c.97A> G (p.Met33Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 32883323: 32883323
16 AHCY NM_000687.3(AHCY): c.97A> G (p.Met33Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 34295517: 34295517
17 AHCY NM_000687.3(AHCY): c.367G> A (p.Gly123Arg) single nucleotide variant Likely benign rs41301825 GRCh37 Chromosome 20, 32880242: 32880242
18 AHCY NM_000687.3(AHCY): c.367G> A (p.Gly123Arg) single nucleotide variant Likely benign rs41301825 GRCh38 Chromosome 20, 34292436: 34292436

Expression for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

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

Pathways for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

GO Terms for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

Sources for Hypermethioninemia with S-Adenosylhomocysteine Hydrolase...

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