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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: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
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:

10393

Name:

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/613647 |C10.574.500.495.820/613647 |C10.668.829.800.300.820/613647 |C16.131.666.300.820/613647 |C16.320.400.375.820/613647

Synonyms:

SPG48

Slim Mappings:

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

Reference:

MedGen: 613647
MeSH: 613647
OMIM: 613647;

Genes: AP5Z1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002518	Abnormal periventricular white matter morphology
3	HP:0002136	Broad-based gait
4	HP:0001310	Dysmetria
5	HP:0001263	Global developmental delay
6	HP:0002079	Hypoplasia of the corpus callosum
7	HP:0007340	Lower limb muscle weakness
8	HP:0002061	Lower limb spasticity
9	HP:0001268	Mental deterioration
10	HP:0001300	Parkinsonism
11	HP:0009830	Peripheral neuropathy
12	HP:0003676	Progressive
13	HP:0000488	Retinopathy
14	HP:0002064	Spastic gait
15	HP:0001258	Spastic paraplegia
16	HP:0000020	Urinary incontinence

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_014855.2(AP5Z1):c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ala362delinsLeuLeuTer)	9907	AP5Z1	Pathogenic	397704705	RCV000000012;	N	MedGen:C3150901,OMIM:613647,ORPHA:306511	7	4820844	4820847	NM_014855.2:c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA	NP_055670.1:p.Arg27_Ala362delinsLeuLeuTer	NC_000007.13:g.4820844_4820847delGGATinsTGCTGTAAACTGTAACTGTAAA	OMIM Allelic Variant:613653.0001	C3150901 613647 Spastic paraplegia 48, autosomal recessive
NM_014855.2(AP5Z1):c.588C>T (p.Ser196=)	9907	AP5Z1	Benign	146665638	RCV000203731;	N	MedGen:C3150901,OMIM:613647,ORPHA:306511	7	4823396	4823396	NM_014855.2:c.588C>T	NP_055670.1:p.Ser196=	NC_000007.13:g.4823396C>T	-	C3150901 613647 Spastic paraplegia 48, autosomal recessive
NM_014855.2(AP5Z1):c.1413_1426delGGACCTGCCCTGCT (p.Leu473Glyfs)	9907	AP5Z1	Pathogenic	397704709	RCV000000013;	N	MedGen:C3150901,OMIM:613647,ORPHA:306511	7	4827366	4827379	NM_014855.2:c.1413_1426delGGACCTGCCCTGCT	NP_055670.1:p.Leu473Glyfs	NC_000007.13:g.4827366_4827379delGGACCTGCCCTGCT	OMIM Allelic Variant:613653.0002	C3150901 613647 Spastic paraplegia 48, autosomal recessive