Entry Search - 162400 605712

Search: '162400 605712 (Search in: MIM number)'

Results: 2 entries.

* 605712. SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1
Cytogenetic location: 9q22.31, Genomic coordinates (GRCh38): 9:92,031,147-92,115,413
Matching terms: 605712
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q22.31	Amyotrophic lateral sclerosis 27, juvenile	620285	AD	3
9q22.31	Neuropathy, hereditary sensory and autonomic, type IA	162400	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 860813007

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# 162400. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
Cytogenetic location: 9q22.31
Matching terms: 162400
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
9q22.31	Neuropathy, hereditary sensory and autonomic, type IA	162400	AD	3	SPTLC1	605712

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Hereditary sensory and autonomic neuropathy - PS162400 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Neuropathy, hereditary sensory and autonomic, type V	AR	3	608654	NGF	162030
1q23.1	Insensitivity to pain, congenital, with anhidrosis	AR	3	256800	NTRK1	191315
2q37.3	Neuropathy, hereditary sensory, type IIC	AR	3	614213	KIF1A	601255
3p24-p22	Neuropathy, hereditary sensory, type IB	AD	2	608088	HSN1B	608088
3p22.2	Neuropathy, hereditary sensory and autonomic, type VII	AD	3	615548	SCN11A	604385
5p15.1	Neuropathy, hereditary sensory and autonomic, type IIB	AR	3	613115	RETREG1	613114
6p12.1	Neuropathy, hereditary sensory and autonomic, type VI	AR	3	614653	DST	113810
9q22.31	Neuropathy, hereditary sensory and autonomic, type IA	AD	3	162400	SPTLC1	605712
9q31.3	Dysautonomia, familial	AR	3	223900	ELP1	603722
9q34.12	Neuropathy, hereditary sensory and autonomic, type VIII	AR	3	616488	PRDM12	616458
11q13.1	Neuropathy, hereditary sensory, type IF	AD	3	615632	ATL3	609369
12p13.33	Neuropathy, hereditary sensory and autonomic, type II	AR	3	201300	WNK1	605232
14q22.1	Neuropathy, hereditary sensory, type ID	AD	3	613708	ATL1	606439
14q24.3	Neuropathy, hereditary sensory and autonomic, type IC	AD	3	613640	SPTLC2	605713
14q32.31	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	AR	3	615031	TECPR2	615000
19p13.2	Neuropathy, hereditary sensory, type IE	AD	3	614116	DNMT1	126375

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD Neuropathy, hereditary sen… Hereditary sensory and aut… OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype NCBI HomoloGene OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 230553002, 397734008, 860813007 ORPHA: 36386 DO: 0070152

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Search: 162400 605712 (Search in: MIM number)

Results: 2 entries.

* 605712. SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1
Cytogenetic location: 9q22.31, Genomic coordinates (GRCh38): 9:92,031,147-92,115,413
Matching terms: 605712

# 162400. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
Cytogenetic location: 9q22.31
Matching terms: 162400

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Printed: May 27, 2024