Entry Search - 201300 243000 601255 603415 605232 613114 613115 614213

Search: '201300 243000 601255 603415 605232 613114 613115 614213 (Search in: MIM number)'

Results: 8 entries.

* 605232. PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
WNK1/HSN2 ISOFORM, INCLUDED
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:752,579-911,452
Matching terms: 605232
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.33	Neuropathy, hereditary sensory and autonomic, type II	201300	AR	3
12p13.33	Pseudohypoaldosteronism, type IIC	614492	AD	3

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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 ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 860809000

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* 613114. RETICULOPHAGY REGULATOR 1; RETREG1
Cytogenetic location: 5p15.1, Genomic coordinates (GRCh38): 5:16,473,053-16,616,997
Matching terms: 613114
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5p15.1	Neuropathy, hereditary sensory and autonomic, type IIB	613115	AR	3

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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 ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 860810005

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# 613115. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
Cytogenetic location: 5p15.1
Matching terms: 613115
► 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
5p15.1	Neuropathy, hereditary sensory and autonomic, type IIB	613115	AR	3	RETREG1	613114

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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	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
SNOMEDCT: 860810005 ORPHA: 970 DO: 0070150

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# 614213. NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C
Cytogenetic location: 2q37.3
Matching terms: 614213
► 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
2q37.3	Neuropathy, hereditary sensory, type IIC	614213	AR	3	KIF1A	601255

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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	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 970 DO: 0070147

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* 601255. KINESIN FAMILY MEMBER 1A; KIF1A
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:240,713,767-240,821,403
Matching terms: 601255
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q37.3	NESCAV syndrome	614255	AD	3
	Neuropathy, hereditary sensory, type IIC	614213	AR	3
	Spastic paraplegia 30, autosomal dominant	610357	AD	3
	Spastic paraplegia 30, autosomal recessive	620607	AR	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 ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 763377006

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# 201300. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Cytogenetic location: 12p13.33
Matching terms: 201300
► 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
12p13.33	Neuropathy, hereditary sensory and autonomic, type II	201300	AR	3	WNK1	605232

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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	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 763803004, 860809000 ICD10CM: G60.8 ORPHA: 970 DO: 0070155

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* 603415. SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 9; SCN9A
Cytogenetic location: 2q24.3, Genomic coordinates (GRCh38): 2:166,195,185-166,375,987
Matching terms: 603415
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q24.3	Erythermalgia, primary	133020	AD	3
	Insensitivity to pain, congenital	243000	AR	3
	Neuropathy, hereditary sensory and autonomic, type IID	243000	AR	3
	Paroxysmal extreme pain disorder	167400	AD	3
	Small fiber neuropathy	133020	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 ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 403390002, 699190008, 709489006

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# 243000. INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D, INCLUDED
Cytogenetic locations: 2q24.3,
Matching terms: 243000
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q24.3	Neuropathy, hereditary sensory and autonomic, type IID	243000	AR	3	SCN9A	603415
2q24.3	Insensitivity to pain, congenital	243000	AR	3	SCN9A	603415

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Links
Testing GTR EuroGentest Congenital insensitivity t… Hereditary sensory and aut…	Clinical Resources Clinical Trials EuroGentest Congenital insensitivity t… Hereditary sensory and aut… Gene Reviews Congenital Insensitivity t… Hereditary Sensory and Aut… Genetic Alliance MedlinePlus Genetics GTR OrphaNet Congenital insensitivity t… Hereditary sensory and aut…	Animal Models OMIA	Cell Lines Coriell

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ICD+
ORPHA: 88642, 970

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Search: 201300 243000 601255 603415 605232 613114 613115 614213 (Search in: MIM number)

Results: 8 entries.

* 605232. PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
WNK1/HSN2 ISOFORM, INCLUDED
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:752,579-911,452
Matching terms: 605232

* 613114. RETICULOPHAGY REGULATOR 1; RETREG1
Cytogenetic location: 5p15.1, Genomic coordinates (GRCh38): 5:16,473,053-16,616,997
Matching terms: 613114

# 613115. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
Cytogenetic location: 5p15.1
Matching terms: 613115

# 614213. NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C
Cytogenetic location: 2q37.3
Matching terms: 614213

* 601255. KINESIN FAMILY MEMBER 1A; KIF1A
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:240,713,767-240,821,403
Matching terms: 601255

# 201300. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Cytogenetic location: 12p13.33
Matching terms: 201300

* 603415. SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 9; SCN9A
Cytogenetic location: 2q24.3, Genomic coordinates (GRCh38): 2:166,195,185-166,375,987
Matching terms: 603415

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