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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy with Cataract (C563849)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Bassoe syndrome (C537661)
..Bethlem myopathy (C535436)
..Distal Myopathies (D049310) 11
..Filaminopathy, autosomal dominant (C537932)
..Glycogen Storage Disease Type VII (D006014)
..Muscular Dystrophies, Limb-Girdle (D049288) 33
..Muscular dystrophy congenital, merosin negative (C537384)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Muscular Dystrophy, Barnes Type (C563558)
..Muscular Dystrophy, Cardiac Type (C563247)
..Muscular Dystrophy, Congenital, 1B (C565748)
..Muscular Dystrophy, Congenital, 1C (C564691)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
..Muscular Dystrophy, Congenital, Megaconial Type (C566527)
..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
..Muscular Dystrophy, Mabry Type (C564096)
..Muscular Dystrophy, Oculopharyngeal (D039141) 1
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Myopathy, Myofibrillar, Zasp-Related (C563718)
..Myotonic Dystrophy (D009223) 1
..Oculopharyngodistal Myopathy (C563508)
..Rigid spine syndrome (C535683)
..Scleroatonic muscular dystrophy (C537521)
..Vacuolar Neuromyopathy (C566617)
..Walker-Warburg Syndrome (D058494) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7536

Name:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5

Definition:

Alternative IDs:

ParentIDs:

MESH:D009136

TreeNumbers:

C05.651.534.500/606612 |C10.668.491.175.500/606612 |C16.320.577/606612

Synonyms:

MDC1C |MDDGB5 |MUSCULAR DYSTROPHY, CONGENITAL, 1C |MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 606612
MeSH: 606612
OMIM: 606612;

Genes: FKRP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002500	Abnormal cerebral white matter morphology
4	HP:0001771	Achilles tendon contracture
5	HP:0008981	Calf muscle hypertrophy
6	HP:0001272	Cerebellar atrophy
7	HP:0002350	Cerebellar cyst
8	HP:0003741	Congenital muscular dystrophy
9	HP:0002194	Delayed gross motor development
10	HP:0003551	Difficulty climbing stairs
11	HP:0002355	Difficulty walking
12	HP:0003236	Elevated circulating creatine kinase concentration
13	HP:0003458	EMG: myopathic abnormalities
14	HP:0010628	Facial palsy
15	HP:0008872	Feeding difficulties in infancy
16	HP:0002359	Frequent falls
17	HP:0003324	Generalized muscle weakness
18	HP:0003307	Hyperlordosis
19	HP:0001249	Intellectual disability
20	HP:0002808	Kyphosis
21	HP:0000158	Macroglossia
22	HP:0000252	Microcephaly
23	HP:0003394	Muscle spasm
24	HP:0003326	Myalgia
25	HP:0001319	Neonatal hypotonia
26	HP:0002111	obsolete Restrictive deficit on pulmonary function testing
27	HP:0001302	Pachygyria	HP:0040283
28	HP:0007126	Proximal amyotrophy
29	HP:0003701	Proximal muscle weakness
30	HP:0002650	Scoliosis
31	HP:0003724	Shoulder girdle muscle atrophy
32	HP:0003547	Shoulder girdle muscle weakness
33	HP:0003733	Thigh hypertrophy
34	HP:0040083	Toe walking
35	HP:0003828	Variable expressivity
36	HP:0002119	Ventriculomegaly	HP:0040283
37	HP:0002948	Vertebral fusion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_024301.4(FKRP):c.235G>A (p.Val79Met)	79147	FKRP	Likely benign;Pathogenic	104894683	RCV000004450; RCV000178350; RCV000178349;	N	MedGen:C1846672,OMIM:607155,ORPHA:34515; MedGen:C1847759,OMIM:606612; MedGen:C3150413,OMIM:613153	19	47258942	47258942	NM_024301.4:c.235G>A	NP_077277.1:p.Val79Met	NC_000019.9:g.47258942G>A	OMIM Allelic Variant:606596.0012	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; C1846672 607155 Limb-girdle muscular dys
NM_024301.4(FKRP):c.826C>A (p.Leu276Ile)	79147	FKRP	Pathogenic	28937900	RCV000004442; RCV000178342; RCV000178341; RCV000082182;	Y	MedGen:C1846672,OMIM:607155,ORPHA:34515; MedGen:C1847759,OMIM:606612; MedGen:C3150413,OMIM:613153; MedGen:CN221809	19	47259533	47259533	NM_024301.4:c.826C>A	NP_077277.1:p.Leu276Ile	NC_000019.9:g.47259533C>A	HGMD:CM013805,OMIM Allelic Variant:606596.0004	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; C1846672 607155 Limb-girdle muscular dys
NM_024301.4(FKRP):c.941C>T (p.Thr314Met)	79147	FKRP	Likely pathogenic;Pathogenic;Uncertain significance	398124395	RCV000178344; RCV000178345; RCV000178343; RCV000082183;	N	MedGen:C1846672,OMIM:607155,ORPHA:34515; MedGen:C1847759,OMIM:606612; MedGen:C3150413,OMIM:613153; MedGen:CN221809	19	47259648	47259648	NM_024301.4:c.941C>T	NP_077277.1:p.Thr314Met	NC_000019.9:g.47259648C>T	HGMD:CM105574	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; C1846672 607155 Limb-girdle muscular dys
NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp)	79147	FKRP	Pathogenic	121908110	RCV000004457; RCV000178347; RCV000178348; RCV000178346; RCV000082172; RCV000194089;	N	Human Phenotype Ontology:HP:0003544,Human Phenotype Ontology:HP:0003560,Human Phenotype Ontology:HP:0003806,MedGen:C1864711; MedGen:C1846672,OMIM:607155,ORPHA:34515; MedGen:C1847759,OMIM:606612; MedGen:C3150413,OMIM:613153; MedGen:CN068805; MedGen:CN221809	19	47260094	47260094	NM_024301.4:c.1387A>G	NP_077277.1:p.Asn463Asp	NC_000019.9:g.47260094A>G	HGMD:CM071763,OMIM Allelic Variant:606596.0018	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; CN068805 Congenital muscular dystrophy-