IDDNPF
MCID: INT311
MIFTS: 16

Intellectual Developmental Disorder with Neuropsychiatric Features (IDDNPF)

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)


HPO:

32
intellectual developmental disorder with neuropsychiatric features:
Inheritance autosomal recessive inheritance


Classifications:



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). Related phenotypes are hypertelorism and seizures

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 Eyes:
hypertelorism
downslanting palpebral fissures
arched eyebrows

Head And Neck Face:
smooth philtrum
triangular face

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

Head And Neck Mouth:
thin lips

Head And Neck Nose:
depressed nasal bridge

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

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617532

Human phenotypes related to Intellectual Developmental Disorder with Neuropsychiatric Features:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 depressed nasal bridge 32 HP:0005280
5 smooth philtrum 32 HP:0000319
6 anxiety 32 HP:0000739
7 intellectual disability, moderate 32 HP:0002342
8 downslanted palpebral fissures 32 HP:0000494
9 highly arched eyebrow 32 HP:0002553
10 thin vermilion border 32 HP:0000233
11 triangular face 32 HP:0000325
12 generalized hypotonia 32 HP:0001290
13 obsessive-compulsive trait 32 HP:0008770

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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