IDDSSA
MCID: INT346
MIFTS: 14

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 57 74 6
Iddssa 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618453
MedGen 42 CN258817

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

UniProtKB/Swiss-Prot : 74 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.

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...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
global developmental delay
cerebral atrophy
poor speech
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:

41
Thyroid

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

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

# Title Authors PMID Year
1
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. 8 71
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
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WIPI2 NM_015610.4(WIPI2): c.745G> A (p.Val249Met) single nucleotide variant Pathogenic 7:5265458-5265458 7:5225827-5225827

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 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
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