IDDSSA
MCID: INT346
MIFTS: 17

Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies (IDDSSA)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Short Stature and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

Name: Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies 56 73 6
Iddssa 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been reported (last curated may 2019)


HPO:

31
intellectual developmental disorder with short stature and variable skeletal anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Short Stature and...

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with short stature and variable skeletal anomalies: An autosomal recessive disorder characterized by severe mental retardation, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities.

MalaCards based summary : Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies, is also known as iddssa. An important gene associated with Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies is WIPI2 (WD Repeat Domain, Phosphoinositide Interacting 2). Affiliated tissues include thyroid, and related phenotypes are dysarthria and kyphosis

More information from OMIM: 618453

Related Diseases for Intellectual Developmental Disorder with Short Stature and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Short Stature and...

Human phenotypes related to Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

31 (showing 14, show less)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 kyphosis 31 HP:0002808
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750
5 dyskinesia 31 HP:0100660
6 short stature 31 HP:0004322
7 intellectual disability, severe 31 HP:0010864
8 arrhythmia 31 HP:0011675
9 clinodactyly of the 5th finger 31 HP:0004209
10 poor speech 31 HP:0002465
11 overlapping toe 31 HP:0001845
12 short thumb 31 HP:0009778
13 camptodactyly 31 HP:0012385
14 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
global developmental delay
poor speech
cerebral atrophy
low iq
more
Growth Height:
short stature

Skeletal Feet:
overlapping toes

Cardiovascular Heart:
cardiac arrhythmias, variable, subclinical

Skeletal Spine:
kyphosis
lumbar abnormalities

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
thumb hypoplasia

Endocrine Features:
hypothyroidism, subclinical

Clinical features from OMIM:

618453

Drugs & Therapeutics for Intellectual Developmental Disorder with Short Stature and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies

Genetic Tests for Intellectual Developmental Disorder with Short Stature and...

Anatomical Context for Intellectual Developmental Disorder with Short Stature and...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

40
Thyroid

Publications for Intellectual Developmental Disorder with Short Stature and...

Articles related to Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

(showing 1, show less)
# Title Authors PMID Year
1
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. 6 56
30968111 2019

Variations for Intellectual Developmental Disorder with Short Stature and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WIPI2 NM_015610.4(WIPI2):c.745G>A (p.Val249Met)SNV Pathogenic 633591 rs756429763 7:5265458-5265458 7:5225827-5225827

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 WIPI2 p.Val249Met VAR_082589

Expression for Intellectual Developmental Disorder with Short Stature and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies.

Pathways for Intellectual Developmental Disorder with Short Stature and...

GO Terms for Intellectual Developmental Disorder with Short Stature and...

Sources for Intellectual Developmental Disorder with Short Stature and...

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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