IDPOGSA
MCID: INT376
MIFTS: 18

Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia (IDPOGSA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Poor Growth and with or...

MalaCards integrated aliases for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:

Name: Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia 57 73 6
Idpogsa 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

31
intellectual developmental disorder with poor growth and with or without seizures or ataxia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Poor Growth and with or...

OMIM® : 57 Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019). (618808) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia, is also known as idpogsa. An important gene associated with Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia is ABCA2 (ATP Binding Cassette Subfamily A Member 2). Related phenotypes are dysarthria and muscle weakness

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with poor growth and with or without seizures or ataxia: An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures.

Related Diseases for Intellectual Developmental Disorder with Poor Growth and with or...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Poor Growth and with or...

Human phenotypes related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 very rare (1%) HP:0001260
2 muscle weakness 31 very rare (1%) HP:0001324
3 microcephaly 31 very rare (1%) HP:0000252
4 intellectual disability, mild 31 very rare (1%) HP:0001256
5 increased ldl cholesterol concentration 31 very rare (1%) HP:0003141
6 gait ataxia 31 very rare (1%) HP:0002066
7 mild global developmental delay 31 very rare (1%) HP:0011342
8 aggressive behavior 31 very rare (1%) HP:0000718
9 developmental cataract 31 very rare (1%) HP:0000519
10 incoordination 31 very rare (1%) HP:0002311
11 fair hair 31 very rare (1%) HP:0002286
12 delayed ability to walk 31 very rare (1%) HP:0031936
13 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
hypotonia
delayed walking
impaired intellectual development
ataxia (in some patients)
more
Head And Neck Head:
prominent forehead
microcephaly (-1 to -3 sd)

Growth Other:
poor overall growth

Skin Nails Hair Skin:
freckles (1 family)

Growth Height:
short stature

Head And Neck Eyes:
deep-set eyes
cataract (in some patients)

Head And Neck Face:
dysmorphic features (in some patients)

Skin Nails Hair Hair:
blonde hair (1 family)

Clinical features from OMIM®:

618808 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Poor Growth and with or...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia

Genetic Tests for Intellectual Developmental Disorder with Poor Growth and with or...

Anatomical Context for Intellectual Developmental Disorder with Poor Growth and with or...

Publications for Intellectual Developmental Disorder with Poor Growth and with or...

Articles related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:

# Title Authors PMID Year
1
Genetics of intellectual disability in consanguineous families. 6 57
29302074 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 6 57
30237576 2019
3
Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum. 57
31047799 2019

Variations for Intellectual Developmental Disorder with Poor Growth and with or...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA2 NM_001606.5(ABCA2):c.937C>T (p.Gln313Ter) SNV Pathogenic 828057 rs1588524458 9:139915474-139915474 9:137021022-137021022
2 ABCA2 NM_001606.5(ABCA2):c.650dup (p.Gly218fs) Duplication Pathogenic 828058 rs1588525874 9:139916370-139916371 9:137021918-137021919
3 ABCA2 NM_001606.5(ABCA2):c.4537_4547delinsG (p.Arg1513fs) Indel Pathogenic 828059 rs1588512383 9:139907916-139907926 9:137013464-137013474

Expression for Intellectual Developmental Disorder with Poor Growth and with or...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia.

Pathways for Intellectual Developmental Disorder with Poor Growth and with or...

GO Terms for Intellectual Developmental Disorder with Poor Growth and with or...

Sources for Intellectual Developmental Disorder with Poor Growth and with or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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