NACED
MCID: NCT013
MIFTS: 22

N-Acetylaspartate Deficiency (NACED)

Categories: Genetic diseases

Aliases & Classifications for N-Acetylaspartate Deficiency

MalaCards integrated aliases for N-Acetylaspartate Deficiency:

Name: N-Acetylaspartate Deficiency 57 74 29 13 6 72
Hypoacetylaspartia 57 74
Naa Deficiency 57 74
Naced 57 74
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:



External Ids:

OMIM 57 614063
MeSH 44 D000592
MedGen 42 C3279716
UMLS 72 C3279716

Summaries for N-Acetylaspartate Deficiency

UniProtKB/Swiss-Prot : 74 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 immunodeficiency, common variable, 10 and ataxia and polyneuropathy, adult-onset, and has symptoms including ataxia, truncal An important gene associated with N-Acetylaspartate Deficiency is NAT8L (N-Acetyltransferase 8 Like). Affiliated tissues include brain and breast, and related phenotypes are seizures and inguinal hernia

More information 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 immunodeficiency, common variable, 10 10.3
2 ataxia and polyneuropathy, adult-onset 10.2
3 microcephaly 10.2
4 triiodothyronine receptor auxiliary protein 10.1
5 peripheral vascular disease 10.1
6 estrogen-receptor positive breast cancer 10.1
7 alcohol use disorder 10.1
8 vascular disease 10.1
9 pneumonia 10.1
10 hypotonia 10.1

Graphical network of the top 20 diseases related to N-Acetylaspartate Deficiency:



Diseases related to N-Acetylaspartate Deficiency

Symptoms & Phenotypes for N-Acetylaspartate Deficiency

Human phenotypes related to N-Acetylaspartate Deficiency:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 inguinal hernia 32 HP:0000023
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 stereotypy 32 HP:0000733
7 generalized hypotonia 32 HP:0001290
8 truncal ataxia 32 HP:0002078
9 decreased body weight 32 HP:0004325
10 unsteady gait 32 HP:0002317
11 self-mutilation 32 HP:0000742
12 short attention span 32 HP:0000736

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

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

MalaCards organs/tissues related to N-Acetylaspartate Deficiency:

41
Brain, Breast

Publications for N-Acetylaspartate Deficiency

Articles related to N-Acetylaspartate Deficiency:

# Title Authors PMID Year
1
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. 8 71
19807691 2009
2
Hypoacetylaspartia: clinical and biochemical follow-up of a patient. 8
16802720 2006
3
Follow-up of a child with hypoacetylaspartia. 8
15328569 2004
4
Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? 8
11310630 2001
5
Neoadjuvant Chemotherapy with or without Concurrent Hormone Therapy in Estrogen Receptor-Positive Breast Cancer: NACED-Randomized Multicenter Phase II Trial. 38
26490026 2015

Variations for N-Acetylaspartate Deficiency

ClinVar genetic disease variations for N-Acetylaspartate Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NAT8L NM_178557.4(NAT8L): c.212_230del (p.Gly71fs) deletion Pathogenic rs587777212 4:2061450-2061468 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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