IDDNPF
MCID: INT311
MIFTS: 18

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 56 73 6
Iddnpf 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
intellectual developmental disorder with neuropsychiatric features:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Neuropsychiatric...

OMIM : 56 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 : 73 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...

Human phenotypes related to Intellectual Developmental Disorder with Neuropsychiatric Features:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 seizures 31 HP:0001250
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 downslanted palpebral fissures 31 HP:0000494
6 intellectual disability, moderate 31 HP:0002342
7 smooth philtrum 31 HP:0000319
8 generalized hypotonia 31 HP:0001290
9 highly arched eyebrow 31 HP:0002553
10 anxiety 31 HP:0000739
11 thin vermilion border 31 HP:0000233
12 triangular face 31 HP:0000325
13 obsessive-compulsive trait 31 HP:0008770

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
arched eyebrows

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

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

Head And Neck Mouth:
thin lips

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
smooth philtrum
triangular face

Muscle Soft Tissue:
hypotonia

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...

Articles related to Intellectual Developmental Disorder with Neuropsychiatric Features:

# Title Authors PMID Year
1
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. 56 6
28434495 2017
2
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 56
27431290 2017

Variations for Intellectual Developmental Disorder with Neuropsychiatric...

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC45A1 NM_001080397.2(SLC45A1):c.731C>T (p.Ala244Val)SNV Pathogenic 428598 rs150539474 1:8386016-8386016 1:8325956-8325956
2 SLC45A1 NM_001080397.2(SLC45A1):c.628C>T (p.Arg210Trp)SNV Pathogenic 428599 rs781036625 1:8385913-8385913 1:8325853-8325853

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

73
# 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

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...

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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