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

Disease Browser
Parent Node: Dementia (D003704)
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..MAST Syndrome (C565409)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..Spastic Paraplegia 7, Autosomal Recessive (C564599)
..Spastic paraplegia 8, autosomal dominant (C536867)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6829

Name:

MAST Syndrome

Definition:

Alternative IDs:

OMIM:248900

ParentIDs:

MESH:D003704|MESH:D015419

TreeNumbers:

C10.228.140.380/C565409 |C10.500.300.820/C565409 |C10.574.500.495.820/C565409 |C10.668.829.800.300.820/C565409 |C16.131.666.300.820/C565409 |C16.320.400.375.820/C565409 |F03.087.400/C565409

Synonyms:

Spastic Paraplegia 21, Autosomal Recessive |SPG21

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease

Reference:

MedGen: C565409
MeSH: C565409
OMIM: 248900;

Genes: SPG21;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003674	Onset
3	HP:0001317	Abnormal cerebellum morphology	HP:0040283
4	HP:0012672	Akinetic mutism	HP:0040283
5	HP:0002186	Apraxia	HP:0040283
6	HP:0003487	Babinski sign
7	HP:0000726	Dementia
8	HP:0001260	Dysarthria	HP:0040283
9	HP:0002015	Dysphagia	HP:0040283
10	HP:0001288	Gait disturbance
11	HP:0001347	Hyperreflexia
12	HP:0007340	Lower limb muscle weakness
13	HP:0001270	Motor delay	HP:0040283
14	HP:0009830	Peripheral neuropathy	HP:0040283
15	HP:0002476	Primitive reflex	HP:0040283
16	HP:0003677	Slowly progressive
17	HP:0002313	Spastic paraparesis
18	HP:0001258	Spastic paraplegia
19	HP:0003828	Variable expressivity

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_016630.6(SPG21):c.846G>A (p.Ala282=)	51324	SPG21	Likely benign	146986015	RCV000199178;	N	MedGen:C1855346,OMIM:248900,ORPHA:101001	15	65256042	65256042	NM_016630.6:c.846G>A	NP_057714.1:p.Ala282=	NC_000015.9:g.65256042C>T	-	C1855346 248900 Mast syndrome
NM_016630.6(SPG21):c.843C>T (p.Tyr281=)	51324	SPG21	Benign	147428832	RCV000204891;	N	MedGen:C1855346,OMIM:248900,ORPHA:101001	15	65256045	65256045	NM_016630.6:c.843C>T	NP_057714.1:p.Tyr281=	NC_000015.9:g.65256045G>A	-	C1855346 248900 Mast syndrome
NM_016630.6(SPG21):c.601dupA (p.Thr201Asnfs)	51324	SPG21	Pathogenic	387906275	RCV000002596;	Y	MedGen:C1855346,OMIM:248900,ORPHA:101001	15	65261660	65261660	NM_016630.6:c.601dupA	NP_057714.1:p.Thr201Asnfs	NC_000015.9:g.65261660dupT	OMIM Allelic Variant:608181.0001	C1855346 248900 Mast syndrome
NM_016630.6(SPG21):c.526A>G (p.Met176Val)	51324	SPG21	Uncertain significance	786204161	RCV000168162;	N	MedGen:C1855346,OMIM:248900,ORPHA:101001	15	65262487	65262487	NM_016630.6:c.526A>G	NP_057714.1:p.Met176Val	NC_000015.9:g.65262487T>C	-	C1855346 248900 Mast syndrome
NM_016630.6(SPG21):c.322G>C (p.Ala108Pro)	51324	SPG21	Pathogenic	587777315	RCV000114945;	N	MedGen:C1855346,OMIM:248900,ORPHA:101001	15	65267070	65267070	NM_016630.6:c.322G>C	NP_057714.1:p.Ala108Pro	NC_000015.9:g.65267070C>G	OMIM Allelic Variant:608181.0002	C1855346 248900 Mast syndrome