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 56 73 29 13 6 71
Hypoacetylaspartia 56 73
Naa Deficiency 56 73
Naced 56 73
Deficiency, N-Acetylaspartate 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
n-acetylaspartate deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for N-Acetylaspartate Deficiency

UniProtKB/Swiss-Prot : 73 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 ataxia and polyneuropathy, adult-onset and microcephaly, 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 global developmental delay 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 ataxia and polyneuropathy, adult-onset 10.2
2 microcephaly 10.2
3 peripheral vascular disease 10.2
4 estrogen-receptor positive breast cancer 10.2
5 alcohol use disorder 10.2
6 vascular disease 10.2
7 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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 inguinal hernia 31 HP:0000023
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 stereotypy 31 HP:0000733
6 decreased body weight 31 HP:0004325
7 generalized hypotonia 31 HP:0001290
8 unsteady gait 31 HP:0002317
9 self-mutilation 31 HP:0000742
10 short attention span 31 HP:0000736
11 truncal ataxia 31 HP:0002078
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
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:
unsteady gait
truncal ataxia
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:

40
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. 56 6
19807691 2009
2
Hypoacetylaspartia: clinical and biochemical follow-up of a patient. 56
16802720 2006
3
Follow-up of a child with hypoacetylaspartia. 56
15328569 2004
4
Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? 56
11310630 2001
5
Neoadjuvant Chemotherapy with or without Concurrent Hormone Therapy in Estrogen Receptor-Positive Breast Cancer: NACED-Randomized Multicenter Phase II Trial. 61
26490026 2015

Variations for N-Acetylaspartate Deficiency

ClinVar genetic disease variations for N-Acetylaspartate Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAT8L NM_178557.4(NAT8L):c.212_230del (p.Gly71fs)deletion Pathogenic 30849 rs587777212 4:2061439-2061457 4:2059712-2059730

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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