MCID: INT311
MIFTS: 13

Intellectual Developmental Disorder with Neuropsychiatric Features

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Neuropsychiatric...

MalaCards integrated aliases for Intellectual Developmental Disorder with Neuropsychiatric Features:

Name: Intellectual Developmental Disorder with Neuropsychiatric Features 57 75 6
Iddnpf 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two consanguineous families have been reported (last curated june 2017)


Classifications:



External Ids:

OMIM 57 617532
MeSH 44 D001523

Summaries for Intellectual Developmental Disorder with Neuropsychiatric...

OMIM : 57 Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017). (617532)

MalaCards based summary : Intellectual Developmental Disorder with Neuropsychiatric Features, is also known as iddnpf. An important gene associated with Intellectual Developmental Disorder with Neuropsychiatric Features is SLC45A1 (Solute Carrier Family 45 Member 1).

UniProtKB/Swiss-Prot : 75 Intellectual developmental disorder with neuropsychiatric features: An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present.

Related Diseases for Intellectual Developmental Disorder with Neuropsychiatric...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Neuropsychiatric...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
triangular face
smooth philtrum

Head And Neck Nose:
depressed nasal bridge

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
neuropsychiatric abnormalities
obsessive-compulsive tendencies
anxiety

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism
arched eyebrows

Head And Neck Mouth:
thin lips

Neurologic Central Nervous System:
delayed development
intellectual disability, moderate
seizures, well-controlled


Clinical features from OMIM:

617532

Drugs & Therapeutics for Intellectual Developmental Disorder with Neuropsychiatric...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Neuropsychiatric Features

Genetic Tests for Intellectual Developmental Disorder with Neuropsychiatric...

Anatomical Context for Intellectual Developmental Disorder with Neuropsychiatric...

Publications for Intellectual Developmental Disorder with Neuropsychiatric...

Variations for Intellectual Developmental Disorder with Neuropsychiatric...

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Neuropsychiatric Features:

75
# Symbol AA change Variation ID SNP ID
1 SLC45A1 p.Ile90Thr VAR_079344 rs141816307
2 SLC45A1 p.Arg210Trp VAR_079345 rs781036625
3 SLC45A1 p.Ala244Val VAR_079346 rs150539474

ClinVar genetic disease variations for Intellectual Developmental Disorder with Neuropsychiatric Features:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC45A1 NM_001080397.2(SLC45A1): c.731C> T (p.Ala244Val) single nucleotide variant Pathogenic rs150539474 GRCh38 Chromosome 1, 8325956: 8325956
2 SLC45A1 NM_001080397.2(SLC45A1): c.731C> T (p.Ala244Val) single nucleotide variant Pathogenic rs150539474 GRCh37 Chromosome 1, 8386016: 8386016
3 SLC45A1 NM_001080397.2(SLC45A1): c.628C> T (p.Arg210Trp) single nucleotide variant Pathogenic rs781036625 GRCh37 Chromosome 1, 8385913: 8385913
4 SLC45A1 NM_001080397.2(SLC45A1): c.628C> T (p.Arg210Trp) single nucleotide variant Pathogenic rs781036625 GRCh38 Chromosome 1, 8325853: 8325853

Expression for Intellectual Developmental Disorder with Neuropsychiatric...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Neuropsychiatric Features.

Pathways for Intellectual Developmental Disorder with Neuropsychiatric...

GO Terms for Intellectual Developmental Disorder with Neuropsychiatric...

Sources for Intellectual Developmental Disorder with Neuropsychiatric...

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11 DGIdb
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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