MCID: NCT013
MIFTS: 19

N-Acetylaspartate Deficiency

Categories: Genetic diseases

Aliases & Classifications for N-Acetylaspartate Deficiency

MalaCards integrated aliases for N-Acetylaspartate Deficiency:

Name: N-Acetylaspartate Deficiency 57 75 29 13 6 73
Hypoacetylaspartia 57 75
Naa Deficiency 57 75
Naced 57 75
Deficiency, N-Acetylaspartate 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated january 2017)


HPO:

32
n-acetylaspartate deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for N-Acetylaspartate Deficiency

UniProtKB/Swiss-Prot : 75 N-acetylaspartate deficiency: A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly.

MalaCards based summary : N-Acetylaspartate Deficiency, also known as hypoacetylaspartia, is related to breast cancer and estrogen-receptor positive breast cancer, and has symptoms including ataxia, truncal An important gene associated with N-Acetylaspartate Deficiency is NAT8L (N-Acetyltransferase 8 Like). Related phenotypes are inguinal hernia and microcephaly

Description from OMIM: 614063

Related Diseases for N-Acetylaspartate Deficiency

Diseases related to N-Acetylaspartate Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 breast cancer 9.9
2 estrogen-receptor positive breast cancer 9.9
3 leukodystrophy 9.9

Symptoms & Phenotypes for N-Acetylaspartate Deficiency

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
inguinal hernia

Neurologic Behavioral Psychiatric Manifestations:
short attention span
stereotyped behavior
repetitive behavior
explores objects by mouthing
tendency to self-mutilation

Growth Weight:
low weight (<3rd centile at 6 years)

Laboratory Abnormalities:
no detectable n-acetylaspartic acid (naa) and n-acetyl-aspartyl-glutamate (naag) in csf
naa and naag at normal levels in urine

Neurologic Central Nervous System:
truncal ataxia
unsteady gait
hypotonia
seizures (onset at age 5yr 9mo)
normal mri
more
Growth Height:
short stature (<3rd centile at 4.5 years)

Head And Neck Head:
microcephaly, secondary (-2.8 sd at 8 years)


Clinical features from OMIM:

614063

Human phenotypes related to N-Acetylaspartate Deficiency:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 microcephaly 32 HP:0000252
3 stereotypy 32 HP:0000733
4 short attention span 32 HP:0000736
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 truncal ataxia 32 HP:0002078
9 unsteady gait 32 HP:0002317
10 short stature 32 HP:0004322
11 decreased body weight 32 HP:0004325

UMLS symptoms related to N-Acetylaspartate Deficiency:


ataxia, truncal

Drugs & Therapeutics for N-Acetylaspartate Deficiency

Search Clinical Trials , NIH Clinical Center for N-Acetylaspartate Deficiency

Genetic Tests for N-Acetylaspartate Deficiency

Genetic tests related to N-Acetylaspartate Deficiency:

# Genetic test Affiliating Genes
1 N-Acetylaspartate Deficiency 29 NAT8L

Anatomical Context for N-Acetylaspartate Deficiency

Publications for N-Acetylaspartate Deficiency

Variations for N-Acetylaspartate Deficiency

ClinVar genetic disease variations for N-Acetylaspartate Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NAT8L NM_178557.3(NAT8L): c.212_230del19 (p.Gly71Alafs) deletion Pathogenic rs587777212 GRCh37 Chromosome 4, 2061450: 2061468
2 NAT8L NM_178557.3(NAT8L): c.212_230del19 (p.Gly71Alafs) deletion Pathogenic rs587777212 GRCh38 Chromosome 4, 2059723: 2059741

Expression for N-Acetylaspartate Deficiency

Search GEO for disease gene expression data for N-Acetylaspartate Deficiency.

Pathways for N-Acetylaspartate Deficiency

GO Terms for N-Acetylaspartate Deficiency

Sources for N-Acetylaspartate Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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