HMAKD
MCID: HYP241
MIFTS: 29

Hypermethioninemia Due to Adenosine Kinase Deficiency (HMAKD)

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

Aliases & Classifications for Hypermethioninemia Due to Adenosine Kinase Deficiency

MalaCards integrated aliases for Hypermethioninemia Due to Adenosine Kinase Deficiency:

Name: Hypermethioninemia Due to Adenosine Kinase Deficiency 57 12 75 29 13 6 15 40
Hypermethioninemia Encephalopathy Due to Adenosine Kinase Deficiency 12 59
Hypermethioninemia Encephalopathy Due to Adk Deficiency 12 59
Adk Hypermethioninemia 12 59
Mrt8 12 75
Mental Retardation, Autosomal Recessive 8, Formerly; Mrt8, Formerly 57
Mental Retardation, Autosomal Recessive 8, Formerly 57
Mental Retardation, Autosomal Recessive 8 73
Mrt8, Formerly 57
Hmakd 75

Characteristics:

Orphanet epidemiological data:

59
hypermethioninemia encephalopathy due to adenosine kinase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
six patients have been reported (as of october 2011)


HPO:

32
hypermethioninemia due to adenosine kinase deficiency:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypermethioninemia Due to Adenosine Kinase Deficiency

OMIM : 57 Hypermethioninemia due to adenosine kinase deficiency is an autosomal recessive inborn error of metabolism characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy); homocysteine is typically normal (summary by Bjursell et al., 2011). (614300)

MalaCards based summary : Hypermethioninemia Due to Adenosine Kinase Deficiency, also known as hypermethioninemia encephalopathy due to adenosine kinase deficiency, is related to perrault syndrome 1. An important gene associated with Hypermethioninemia Due to Adenosine Kinase Deficiency is ADK (Adenosine Kinase). Affiliated tissues include liver and skeletal muscle, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material basis in homozygous mutation in the ADK gene on chromosome 10q22.

UniProtKB/Swiss-Prot : 75 Hypermethioninemia due to adenosine kinase deficiency: A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal.

Related Diseases for Hypermethioninemia Due to Adenosine Kinase Deficiency

Diseases related to Hypermethioninemia Due to Adenosine Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

Symptoms & Phenotypes for Hypermethioninemia Due to Adenosine Kinase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
frontal bossing

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
poor speech development
global developmental delay, severe
more
Abdomen Liver:
cholestasis
steatosis
liver dysfunction, mild
portal fibrosis, mild

Muscle Soft Tissue:
hypotonia
muscle wasting

Skeletal Hands:
slender hands

Cardiovascular Heart:
cardiac defects (in some)
atrial septal defect (2 patients)
pulmonary stenosis (1 patient)

Head And Neck Eyes:
hypertelorism

Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperbilirubinemia
abnormal liver enzymes
hypermethioninemia
increased serum s-adenosylmethionine
increased serum s-adenosylhomocysteine
more
Skeletal Feet:
slender feet

Head And Neck Ears:
hearing loss, sensorineural (in some)

Cardiovascular Vascular:
coarctation of the aorta (1 patient)


Clinical features from OMIM:

614300

Human phenotypes related to Hypermethioninemia Due to Adenosine Kinase Deficiency:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 frontal bossing 32 HP:0002007
4 seizures 32 HP:0001250
5 failure to thrive 32 HP:0001508
6 global developmental delay 32 HP:0001263
7 delayed speech and language development 32 HP:0000750
8 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
9 decreased liver function 32 HP:0001410
10 skeletal muscle atrophy 32 HP:0003202
11 hepatic steatosis 32 HP:0001397
12 atrial septal defect 32 occasional (7.5%) HP:0001631
13 coarctation of aorta 32 occasional (7.5%) HP:0001680
14 narrow foot 32 HP:0001786
15 cholestasis 32 HP:0001396
16 pulmonic stenosis 32 occasional (7.5%) HP:0001642
17 hyperbilirubinemia 32 HP:0002904
18 generalized hypotonia 32 HP:0001290
19 cerebral atrophy 32 HP:0002059
20 poor speech 32 HP:0002465
21 hypermethioninemia 32 HP:0003235
22 portal fibrosis 32 HP:0006580
23 elevated hepatic transaminase 32 HP:0002910

GenomeRNAi Phenotypes related to Hypermethioninemia Due to Adenosine Kinase Deficiency according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.73 TUSC3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.73 ADK TUSC3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.73 ADK
4 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.73 ADK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.73 TUSC3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.73 ADK
7 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.73 TUSC3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.73 ADK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.73 TUSC3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.73 ADK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.73 TUSC3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.7 TUSC3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.7 TUSC3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.7 TUSC3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 ADK TUSC3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.7 ADK
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.7 ADK
18 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 8.62 ADK TUSC3

Drugs & Therapeutics for Hypermethioninemia Due to Adenosine Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Hypermethioninemia Due to Adenosine Kinase Deficiency

Genetic Tests for Hypermethioninemia Due to Adenosine Kinase Deficiency

Genetic tests related to Hypermethioninemia Due to Adenosine Kinase Deficiency:

# Genetic test Affiliating Genes
1 Hypermethioninemia Due to Adenosine Kinase Deficiency 29 ADK

Anatomical Context for Hypermethioninemia Due to Adenosine Kinase Deficiency

MalaCards organs/tissues related to Hypermethioninemia Due to Adenosine Kinase Deficiency:

41
Liver, Skeletal Muscle

Publications for Hypermethioninemia Due to Adenosine Kinase Deficiency

Variations for Hypermethioninemia Due to Adenosine Kinase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Hypermethioninemia Due to Adenosine Kinase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 ADK p.Gly30Glu VAR_066640 rs397514454
2 ADK p.Asp235Ala VAR_066641 rs397514453
3 ADK p.Ala318Glu VAR_066642 rs397514452

ClinVar genetic disease variations for Hypermethioninemia Due to Adenosine Kinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADK NM_001123.3(ADK): c.902C> A (p.Ala301Glu) single nucleotide variant Pathogenic rs397514452 GRCh37 Chromosome 10, 76430016: 76430016
2 ADK NM_001123.3(ADK): c.902C> A (p.Ala301Glu) single nucleotide variant Pathogenic rs397514452 GRCh38 Chromosome 10, 74670258: 74670258
3 ADK NM_006721.3(ADK): c.704A> C (p.Asp235Ala) single nucleotide variant Pathogenic rs397514453 GRCh37 Chromosome 10, 76285162: 76285162
4 ADK NM_006721.3(ADK): c.704A> C (p.Asp235Ala) single nucleotide variant Pathogenic rs397514453 GRCh38 Chromosome 10, 74525404: 74525404
5 ADK NM_006721.3(ADK): c.89G> A (p.Gly30Glu) single nucleotide variant Pathogenic rs397514454 GRCh37 Chromosome 10, 75960545: 75960545
6 ADK NM_006721.3(ADK): c.89G> A (p.Gly30Glu) single nucleotide variant Pathogenic rs397514454 GRCh38 Chromosome 10, 74200787: 74200787

Expression for Hypermethioninemia Due to Adenosine Kinase Deficiency

Search GEO for disease gene expression data for Hypermethioninemia Due to Adenosine Kinase Deficiency.

Pathways for Hypermethioninemia Due to Adenosine Kinase Deficiency

GO Terms for Hypermethioninemia Due to Adenosine Kinase Deficiency

Sources for Hypermethioninemia Due to Adenosine Kinase Deficiency

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74 UMLS via Orphanet
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