IDDNPF
MCID: INT311
MIFTS: 17

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 74 6
Iddnpf 57 74

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:



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). Related phenotypes are hypertelorism and seizures

UniProtKB/Swiss-Prot : 74 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:

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 generalized hypotonia 32 HP:0001290
7 highly arched eyebrow 32 HP:0002553
8 anxiety 32 HP:0000739
9 intellectual disability, moderate 32 HP:0002342
10 downslanted palpebral fissures 32 HP:0000494
11 thin vermilion border 32 HP:0000233
12 triangular face 32 HP:0000325
13 obsessive-compulsive trait 32 HP:0008770

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

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. 8 71
28434495 2017
2
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 8
27431290 2017

Variations for Intellectual Developmental Disorder with Neuropsychiatric...

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

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

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

74
# 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 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
Content
Loading form....