MDCCAID
MCID: MSC142
MIFTS: 31

Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability (MDCCAID)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

MalaCards integrated aliases for Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

Name: Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 56 73 29 6 17
Congenital Muscular Dystrophy with Cataracts and Intellectual Disability 12 15
Mdccaid 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or early infancy
many patients become wheelchair-bound as adults


HPO:

31
muscular dystrophy, congenital, with cataracts and intellectual disability:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

UniProtKB/Swiss-Prot : 73 Muscular dystrophy, congenital, with cataracts and intellectual disability: An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures.

MalaCards based summary : Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability, also known as congenital muscular dystrophy with cataracts and intellectual disability, is related to salt and pepper syndrome and multiple congenital anomalies-hypotonia-seizures syndrome 3. An important gene associated with Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability is INPP5K (Inositol Polyphosphate-5-Phosphatase K), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Related phenotypes are microcephaly and respiratory insufficiency

Disease Ontology : 12 A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.

OMIM : 56 MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017). (617404)

Related Diseases for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Diseases related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 salt and pepper syndrome 10.0 PIGY PGAP1
2 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.0 PIGY GPAA1
3 multiple congenital anomalies-hypotonia-seizures syndrome 2 9.9 PIGY PGAP1
4 anterior segment dysgenesis 4 9.8 PIGY PGAP1
5 spastic paraplegia 44, autosomal recessive 9.6 ZFYVE27 PGAP1
6 spastic paraplegia 2, x-linked 9.4 ZFYVE27 PGAP1
7 autosomal recessive non-syndromic intellectual disability 9.3 ZFYVE27 PIGY PGAP1
8 hereditary spastic paraplegia 8.8 ZFYVE27 PGAP1 KIF13B

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:



Diseases related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Human phenotypes related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 respiratory insufficiency 31 occasional (7.5%) HP:0002093
3 lower limb spasticity 31 occasional (7.5%) HP:0002061
4 seizure 31 occasional (7.5%) HP:0001250
5 cataract 31 HP:0000518
6 intellectual disability 31 HP:0001249
7 global developmental delay 31 HP:0001263
8 scoliosis 31 HP:0002650
9 short stature 31 HP:0004322
10 elevated serum creatine kinase 31 HP:0003236
11 strabismus 31 HP:0000486
12 hyperlordosis 31 HP:0003307
13 spinal rigidity 31 HP:0003306
14 toe walking 31 HP:0040083
15 motor delay 31 HP:0001270
16 generalized hypotonia 31 HP:0001290
17 gowers sign 31 HP:0003391
18 increased adipose tissue 31 HP:0009126

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
toe walking
abnormal gait
delayed motor development
seizures (in some patients)
more
Growth Height:
short stature

Muscle Soft Tissue:
gowers sign
increased adipose tissue
hypotonia
dystrophic changes seen on muscle biopsy
muscle weakness, proximal greater than distal
more
Head And Neck Head:
microcephaly (in some patients)

Skeletal Spine:
scoliosis
hyperlordosis
spinal rigidity

Head And Neck Eyes:
strabismus
cataracts

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory insufficiency (in some patients)

Clinical features from OMIM:

617404

Drugs & Therapeutics for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability

Genetic Tests for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Genetic tests related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 29 INPP5K

Anatomical Context for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Publications for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Articles related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

# Title Authors PMID Year
1
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 6 56
28190459 2017
2
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 6 56
28190456 2017

Variations for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INPP5K NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)SNV Pathogenic 417777 rs1060505038 17:1417169-1417169 17:1513875-1513875
2 INPP5K NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)SNV Pathogenic 417778 rs766046008 17:1401294-1401294 17:1498000-1498000
3 INPP5K NM_016532.4(INPP5K):c.277A>G (p.Met93Val)SNV Pathogenic 417779 rs1060505039 17:1413078-1413078 17:1509784-1509784
4 INPP5K NM_016532.4(INPP5K):c.67G>A (p.Val23Met)SNV Pathogenic 417780 rs750781027 17:1417251-1417251 17:1513957-1513957
5 INPP5K NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn)SNV Pathogenic 417781 rs761612652 17:1401388-1401388 17:1498094-1498094
6 INPP5K NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs)deletion Pathogenic 417782 rs1060505040 17:1399392-1399393 17:1496098-1496099
7 INPP5K NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser)SNV Pathogenic 417783 rs749383757 17:1412608-1412608 17:1509314-1509314

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability:

73
# Symbol AA change Variation ID SNP ID
1 INPP5K p.Val23Met VAR_078998 rs750781027
2 INPP5K p.Ile50Thr VAR_078999 rs106050503
3 INPP5K p.Met93Val VAR_079000 rs106050503
4 INPP5K p.Gly140Ser VAR_079001 rs749383757
5 INPP5K p.Asp269Asn VAR_079002 rs761612652
6 INPP5K p.Tyr300Cys VAR_079004 rs766046008
7 INPP5K p.Ile363Thr VAR_079005 rs993849342

Expression for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability.

Pathways for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Pathways related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.95 PGAP1 GPAA1
2
Show member pathways
10.41 PIGY PGAP1 GPAA1

GO Terms for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

Cellular components related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.35 ZFYVE27 PIGY PGAP1 GPAA1 CDS1
2 endoplasmic reticulum GO:0005783 9.1 ZFYVE27 PIGY PGAP1 INPP5K GPAA1 CDS1

Biological processes related to Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 9.16 INPP5K CDS1
2 attachment of GPI anchor to protein GO:0016255 8.96 PGAP1 GPAA1
3 GPI anchor biosynthetic process GO:0006506 8.8 PIGY PGAP1 GPAA1

Sources for Muscular Dystrophy, Congenital, with Cataracts and Intellectual...

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
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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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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