MCID: MSC142
MIFTS: 19

Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability

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 57 75 6
Mdccaid 57 75
Congenital Muscular Dystrophy with Cataracts and Intellectual Disability 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy, congenital, with cataracts and intellectual disability:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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, is also known as mdccaid. An important gene associated with Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability is INPP5K (Inositol Polyphosphate-5-Phosphatase K). Related phenotypes are microcephaly and strabismus

OMIM : 57 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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
hyperlordosis
spinal rigidity

Growth Height:
short stature

Muscle Soft Tissue:
increased adipose tissue
hypotonia
gower sign
muscle weakness, proximal greater than distal
increased fiber size variability
more
Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
global developmental delay
toe walking
delayed motor development
seizures (in some patients)
abnormal gait
more
Head And Neck Eyes:
strabismus
cataracts

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory insufficiency (in some patients)


Clinical features from OMIM:

617404

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 strabismus 32 HP:0000486
3 cataract 32 HP:0000518
4 intellectual disability 32 HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 global developmental delay 32 HP:0001263
7 motor delay 32 HP:0001270
8 generalized hypotonia 32 HP:0001290
9 lower limb spasticity 32 occasional (7.5%) HP:0002061
10 respiratory insufficiency 32 occasional (7.5%) HP:0002093
11 scoliosis 32 HP:0002650
12 elevated serum creatine phosphokinase 32 HP:0003236
13 spinal rigidity 32 HP:0003306
14 hyperlordosis 32 HP:0003307
15 gowers sign 32 HP:0003391
16 short stature 32 HP:0004322
17 increased adipose tissue 32 HP:0009126
18 toe walking 32 HP:0040083

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...

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

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 INPP5K p.Val23Met VAR_078998 rs750781027
2 INPP5K p.Ile50Thr VAR_078999
3 INPP5K p.Met93Val VAR_079000
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

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

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 INPP5K NM_016532.3(INPP5K): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs1060505038 GRCh38 Chromosome 17, 1513875: 1513875
2 INPP5K NM_016532.3(INPP5K): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs1060505038 GRCh37 Chromosome 17, 1417169: 1417169
3 INPP5K NM_016532.3(INPP5K): c.899A> G (p.Tyr300Cys) single nucleotide variant Pathogenic rs766046008 GRCh38 Chromosome 17, 1498000: 1498000
4 INPP5K NM_016532.3(INPP5K): c.899A> G (p.Tyr300Cys) single nucleotide variant Pathogenic rs766046008 GRCh37 Chromosome 17, 1401294: 1401294
5 INPP5K NM_016532.3(INPP5K): c.277A> G (p.Met93Val) single nucleotide variant Pathogenic rs1060505039 GRCh38 Chromosome 17, 1509784: 1509784
6 INPP5K NM_016532.3(INPP5K): c.277A> G (p.Met93Val) single nucleotide variant Pathogenic rs1060505039 GRCh37 Chromosome 17, 1413078: 1413078
7 INPP5K NM_016532.3(INPP5K): c.67G> A (p.Val23Met) single nucleotide variant Pathogenic rs750781027 GRCh37 Chromosome 17, 1417251: 1417251
8 INPP5K NM_016532.3(INPP5K): c.67G> A (p.Val23Met) single nucleotide variant Pathogenic rs750781027 GRCh38 Chromosome 17, 1513957: 1513957
9 INPP5K NM_016532.3(INPP5K): c.805G> A (p.Asp269Asn) single nucleotide variant Pathogenic rs761612652 GRCh37 Chromosome 17, 1401388: 1401388
10 INPP5K NM_016532.3(INPP5K): c.805G> A (p.Asp269Asn) single nucleotide variant Pathogenic rs761612652 GRCh38 Chromosome 17, 1498094: 1498094
11 INPP5K NM_016532.3(INPP5K): c.1251_1252delCA (p.Asn417Lysfs) deletion Pathogenic rs1060505040 GRCh37 Chromosome 17, 1399392: 1399393
12 INPP5K NM_016532.3(INPP5K): c.1251_1252delCA (p.Asn417Lysfs) deletion Pathogenic rs1060505040 GRCh38 Chromosome 17, 1496098: 1496099
13 INPP5K NM_016532.3(INPP5K): c.418G> A (p.Gly140Ser) single nucleotide variant Pathogenic rs749383757 GRCh37 Chromosome 17, 1412608: 1412608
14 INPP5K NM_016532.3(INPP5K): c.418G> A (p.Gly140Ser) single nucleotide variant Pathogenic rs749383757 GRCh38 Chromosome 17, 1509314: 1509314

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...

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

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

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