NACED
MCID: NCT013
MIFTS: 19

N-Acetylaspartate Deficiency (NACED)

Categories: Genetic diseases

Aliases & Classifications for N-Acetylaspartate Deficiency

MalaCards integrated aliases for N-Acetylaspartate Deficiency:

Name: N-Acetylaspartate Deficiency 58 76 30 13 6 74
Hypoacetylaspartia 58 76
Naa Deficiency 58 76
Naced 58 76
Deficiency, N-Acetylaspartate 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
n-acetylaspartate deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for N-Acetylaspartate Deficiency

UniProtKB/Swiss-Prot : 76 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 leukodystrophy, and has symptoms including ataxia, truncal An important gene associated with N-Acetylaspartate Deficiency is NAT8L (N-Acetyltransferase 8 Like). Related phenotypes are seizures and inguinal hernia

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 leukodystrophy 10.1

Symptoms & Phenotypes for N-Acetylaspartate Deficiency

Human phenotypes related to N-Acetylaspartate Deficiency:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 inguinal hernia 33 HP:0000023
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 short stature 33 HP:0004322
6 stereotypy 33 HP:0000733
7 truncal ataxia 33 HP:0002078
8 decreased body weight 33 HP:0004325
9 generalized hypotonia 33 HP:0001290
10 unsteady gait 33 HP:0002317
11 self-mutilation 33 HP:0000742
12 short attention span 33 HP:0000736

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NAT8L

Anatomical Context for N-Acetylaspartate Deficiency

Publications for N-Acetylaspartate Deficiency

Articles related to N-Acetylaspartate Deficiency:

# Title Authors Year
1
Hypoacetylaspartia: clinical and biochemical follow-up of a patient. ( 16802720 )
2006
2
Follow-up of a child with hypoacetylaspartia. ( 15328569 )
2004

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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