Spastic Paraplegia 51, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPG51 MCID: SPS152 MIFTS: 31	Spastic Paraplegia 51, Autosomal Recessive (SPG51) Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Spastic Paraplegia 51, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:

Name: Spastic Paraplegia 51, Autosomal Recessive ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Spg51 ⁵⁷ ⁷⁵

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; Cpsq4, Formerly ⁵⁷

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly ⁵⁷

Palsy, Cerebral, Spastic Quadriplegic, Type 4 ⁴⁰

Cerebral Palsy, Spastic Quadriplegic 4 ⁷⁵

Cpsq4, Formerly ⁵⁷

Cpsq4 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families have been reported (as of june 2011)

HPO:

³²

spastic paraplegia 51, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613744

MedGen ⁴² C3151056

MeSH ⁴⁴ D002547 D015419

SNOMED-CT via HPO ⁶⁹ 258211005 40159009 271611007 more

UMLS ⁷³ C3151056

Sources

Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 51, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.

MalaCards based summary : Spastic Paraplegia 51, Autosomal Recessive, also known as spg51, is related to spastic paraplegia 51 and hereditary spastic paraplegia 51, and has symptoms including seizures An important gene associated with Spastic Paraplegia 51, Autosomal Recessive is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1). Affiliated tissues include skin, bone and eye, and related phenotypes are nystagmus and seizures

OMIM : ⁵⁷ Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011). (613744)

Sources

Related Diseases for Spastic Paraplegia 51, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant	Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant	Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant	Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive	Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive	Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive	Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive	Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive	Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51	Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 1
Spastic Paraplegia 10	Spastic Paraplegia 12
Spastic Paraplegia 13	Spastic Paraplegia 14
Spastic Paraplegia 15	Spastic Paraplegia 16
Spastic Paraplegia 17	Spastic Paraplegia 18
Spastic Paraplegia 19	Spastic Paraplegia 24
Spastic Paraplegia 25	Spastic Paraplegia 26
Spastic Paraplegia 29	Spastic Paraplegia 3
Spastic Paraplegia 31	Spastic Paraplegia 32
Spastic Paraplegia 39	Spastic Paraplegia 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59	Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69	Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71	Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67	Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 51, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 51	11.6
2	hereditary spastic paraplegia 51	11.4

Sources

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
downslanting palpebral fissures

Head And Neck Face:
coarse facial features
short philtrum
facial hypotonia
bitemporal narrowing
long narrow face
more

Head And Neck Head:
microcephaly

Skeletal Feet:
talipes equinovarus

Skeletal:
joint contractures

Muscle Soft Tissue:
hypotonia, neonatal and later
decreased muscle mass in the thighs

Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
enlarged ventricles
extensor plantar responses
more

Head And Neck Nose:
wide nasal bridge
bulbous nose
long nose

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
drooling

Head And Neck Ears:
prominent antihelix

Neurologic Behavioral Psychiatric Manifestations:
stereotypic laughter
shy behavior
amicable behavior

Clinical features from OMIM:

613744

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

³² (show all 30)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	seizures ³²	HP:0001250
3	hyperreflexia ³²	HP:0001347
4	coarse facial features ³²	HP:0000280
5	global developmental delay ³²	HP:0001263
6	wide nasal bridge ³²	HP:0000431
7	microcephaly ³²	HP:0000252
8	neonatal hypotonia ³²	HP:0001319
9	short stature ³²	HP:0004322
10	flexion contracture ³²	HP:0001371
11	decreased muscle mass ³²	HP:0003199
12	spastic tetraplegia ³²	HP:0002510
13	intellectual disability, severe ³²	HP:0010864
14	babinski sign ³²	HP:0003487
15	ventriculomegaly ³²	HP:0002119
16	cerebral cortical atrophy ³²	HP:0002120
17	talipes equinovarus ³²	HP:0001762
18	wide mouth ³²	HP:0000154
19	short philtrum ³²	HP:0000322
20	narrow face ³²	HP:0000275
21	downslanted palpebral fissures ³²	HP:0000494
22	bulbous nose ³²	HP:0000414
23	pointed chin ³²	HP:0000307
24	spastic paraplegia ³²	HP:0001258
25	long nose ³²	HP:0003189
26	cerebellar atrophy ³²	HP:0001272
27	drooling ³²	HP:0002307
28	narrow forehead ³²	HP:0000341
29	facial hypotonia ³²	HP:0000297
30	prominent antihelix ³²	HP:0000395

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:

seizures

Sources

Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 51, Autosomal Recessive

Sources

Genetic Tests for Spastic Paraplegia 51, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 51, Autosomal Recessive ²⁹	AP4E1

Sources

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 51, Autosomal Recessive:

⁴¹

Skin, Bone, Eye

Sources

Publications for Spastic Paraplegia 51, Autosomal Recessive

Sources

Genes for Spastic Paraplegia 51, Autosomal Recessive

Genes related to Spastic Paraplegia 51, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AP4E1	Adaptor Related Protein Complex 4 Subunit Epsilon 1	Protein Coding	1028.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15037681 20972249 21620353 (more) 21937992

Sources

Variations for Spastic Paraplegia 51, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AP4E1	NC_000015.10: g.50755991_50948682del	deletion	Pathogenic		GRCh38	Chromosome 15, 50755991: 50948682
2	AP4E1	NC_000015.10: g.50755991_50948682del	deletion	Pathogenic		GRCh37	Chromosome 15, 51048188: 51240879
3	AP4E1	AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA	deletion	Pathogenic
4	AP4E1	AP4E1, VAL454FS	insertion	Pathogenic
5	AP4E1	NM_007347.4(AP4E1): c.3387G> A (p.Gln1129=)	single nucleotide variant	Benign	rs3825798	GRCh37	Chromosome 15, 51294832: 51294832
6	AP4E1	NM_007347.4(AP4E1): c.3387G> A (p.Gln1129=)	single nucleotide variant	Benign	rs3825798	GRCh38	Chromosome 15, 51002635: 51002635
7	AP4E1	NM_007347.4(AP4E1): c.487T> C (p.Cys163Arg)	single nucleotide variant	Benign	rs2306331	GRCh37	Chromosome 15, 51217361: 51217361
8	AP4E1	NM_007347.4(AP4E1): c.487T> C (p.Cys163Arg)	single nucleotide variant	Benign	rs2306331	GRCh38	Chromosome 15, 50925164: 50925164
9	AP4E1	NM_007347.4(AP4E1): c.222+18G> A	single nucleotide variant	Benign	rs1147129	GRCh37	Chromosome 15, 51204364: 51204364
10	AP4E1	NM_007347.4(AP4E1): c.222+18G> A	single nucleotide variant	Benign	rs1147129	GRCh38	Chromosome 15, 50912167: 50912167

Sources

Expression for Spastic Paraplegia 51, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 51, Autosomal Recessive.

Sources

Pathways for Spastic Paraplegia 51, Autosomal Recessive

Sources

GO Terms for Spastic Paraplegia 51, Autosomal Recessive

Sources

Sources for Spastic Paraplegia 51, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Spastic Paraplegia 51, Autosomal Recessive (SPG51)

Aliases & Classifications for Spastic Paraplegia 51, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 51, Autosomal Recessive

Related Diseases for Spastic Paraplegia 51, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 51, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:

Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 51, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 51, Autosomal Recessive:

Publications for Spastic Paraplegia 51, Autosomal Recessive

Genes for Spastic Paraplegia 51, Autosomal Recessive

Genes related to Spastic Paraplegia 51, Autosomal Recessive (1 elite genes):

Variations for Spastic Paraplegia 51, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:

Expression for Spastic Paraplegia 51, Autosomal Recessive

Pathways for Spastic Paraplegia 51, Autosomal Recessive

GO Terms for Spastic Paraplegia 51, Autosomal Recessive

Sources for Spastic Paraplegia 51, Autosomal Recessive