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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Cataract (D002386)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Alpha-B Crystallinopathy (C563848)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

465

Name:

Alpha-B Crystallinopathy

Definition:

Alternative IDs:

OMIM:608810

ParentIDs:

MESH:D002386|MESH:D009135|MESH:D009202

TreeNumbers:

C05.651/C563848 |C10.668.491/C563848 |C11.510.245/C563848 |C14.280.238/C563848

Synonyms:

Slim Mappings:

Cardiovascular disease|Eye disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563848
MeSH: C563848
OMIM: 608810;

Genes: CRYAB;

Phenotypes

1	HP:0003736	Autophagic vacuoles
2	HP:0000006	Autosomal dominant inheritance
3	HP:0003581	Adult onset
4	HP:0003694	Late-onset proximal muscle weakness
5	HP:0000518	Cataract
6	HP:0009072	Decreased Achilles reflex
7	HP:0002460	Distal muscle weakness
8	HP:0003236	Elevated circulating creatine kinase concentration
9	HP:0003458	EMG: myopathic abnormalities
10	HP:0009027	Foot dorsiflexor weakness
11	HP:0001639	Hypertrophic cardiomyopathy
12	HP:0003325	Limb-girdle muscle weakness
13	HP:0003555	Muscle fiber splitting
14	HP:0003560	Muscular dystrophy
15	HP:0000467	Neck muscle weakness
16	HP:0002747	Respiratory insufficiency due to muscle weakness
17	HP:0003677	Slowly progressive

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_001885.2(CRYAB):c.451C>T (p.Gln151Ter)	1410	CRYAB	Pathogenic	104894202	RCV000018468;	N	MedGen:C1837317,OMIM:608810,OMIM:613869,ORPHA:98910	11	111779565	111779565	NM_001885.2:c.451C>T	NP_001876.1:p.Gln151Ter	NC_000011.9:g.111779565G>A	OMIM Allelic Variant:123590.0004	C1837317 613869 Alpha-B crystallinopathy; C1837317 608810 Alpha-B crystallinopathy
NM_001885.2(CRYAB):c.358A>G (p.Arg120Gly)	1410	CRYAB	Pathogenic	104894201	RCV000018465;	N	MedGen:C1837317,OMIM:608810,OMIM:613869,ORPHA:98910	11	111779658	111779658	NM_001885.2:c.358A>G	NP_001876.1:p.Arg120Gly	NC_000011.9:g.111779658T>C	OMIM Allelic Variant:123590.0001	C1837317 608810 Alpha-B crystallinopathy; C1837317 613869 Alpha-B crystallinopathy
NM_001885.2(CRYAB):c.343delT (p.Ser115Profs)	1410	CRYAB	Pathogenic	281865142	RCV000032215; RCV000183328;	N	MedGen:C1837317,OMIM:608810,OMIM:613869,ORPHA:98910; MedGen:CN221809	11	111779673	111779673	NM_001885.2:c.343delT	NP_001876.1:p.Ser115Profs	NC_000011.9:g.111779673delA	-	C1837317 613869 Alpha-B crystallinopathy; C1837317 608810 Alpha-B crystallinopathy; CN221809 not provided
NM_001885.2(CRYAB):c.325G>C (p.Asp109His)	1410	CRYAB	Pathogenic	387907339	RCV000034843;	N	MedGen:C1837317,OMIM:608810,OMIM:613869,ORPHA:98910	11	111779691	111779691	NM_001885.2:c.325G>C	NP_001876.1:p.Asp109His	NC_000011.9:g.111779691C>G	OMIM Allelic Variant:123590.0011	C1837317 608810 Alpha-B crystallinopathy; C1837317 613869 Alpha-B crystallinopathy
NM_001885.2(CRYAB):c.60delC (p.Ser21Alafs)	1410	CRYAB	Pathogenic	281865141	RCV000043523;	N	MedGen:C1837317,OMIM:608810,OMIM:613869,ORPHA:98910	11	111782389	111782389	NM_001885.2:c.60delC	NP_001876.1:p.Ser21Alafs	NC_000011.9:g.111782389delG	OMIM Allelic Variant:123590.0005	C1837317 613869 Alpha-B crystallinopathy; C1837317 608810 Alpha-B crystallinopathy