eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	hereditary motor and sensory neuropathy v

Disease ID	1143
Disease	hereditary motor and sensory neuropathy v
Definition	A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Synonym	cmt with pyramidal features familial spastic paraplegia syndrome hered spastic paraplegia hereditary motor and sensory neuropathy 5 hereditary motor and sensory neuropathy type v hereditary motor and sensory neuropathy, type v hereditary motor sensory neuropathy with pyramidal signs hereditary motor-sensory neuropathy with pyramidal signs hereditary sensory-motor neuropathy, type v hereditary sensory-motor neuropathy, type v (disorder) hereditary spastic paraplegia hereditary spastic paraplegia (disorder) hereditary spastic paraplegias hmsn 5 hmsn type v hmsn v hmsn v (hereditary motor and sensory neuropathy type v) hmsn5 hsmn v hsp - hereditary spastic paraplegia hypertrophic motor sensory neuropathy spastic paraplegia hypertrophic motor-sensory neuropathy-spastic paraplegia paralysis, spastic spinal familial paraplegia, hereditary spastic paraplegia, spasmodic infantile paraplegia, spastic congenital paraplegia, spastic hereditary paraplegia, spastic, hereditary paraplegias, hereditary spastic spastic congenital paraplegia spastic paraplegia hereditary spastic paraplegia hypertrophic motor sensory neuropathy spastic paraplegia with hypertrophic sensory-motor neuropathy, type v spastic paraplegia, hereditary spastic paraplegia, hereditary [disease/finding] spastic paraplegia-hypertrophic motor-sensory neuropathy spastic paraplegias, hereditary strumpell disease strumpell-lorrain disease type v hereditary motor and sensory neuropathy type v, hmsn
Orphanet	ORPHANET:685 ORPHANET:64751
OMIM	OMIM:182600 OMIM:600361
DOID	DOID:2476
ICD10	ICD10CM:G11.4
UMLS	C0037773
MeSH	D015419
SNOMED-CT	SNOMEDCT_US_2016_09_01:76043009;SNOMEDCT_US_2016_09_01:39912006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0270921 \| axonal neuropathy \| 2 C0025362 \| mental retardation \| 2 C0442874 \| neuropathy \| 2 C0031117 \| peripheral neuropathy \| 2 C0007758 \| cerebellar ataxia \| 1 C0015526 \| factor xii deficiency \| 1 C0000744 \| familial hypobetalipoproteinemia \| 1 C0020597 \| hypobetalipoproteinemia \| 1 C0030486 \| paraplegia \| 1 C0086543 \| cataracts \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:58) 3329 \| HSPD1 \| UniProtKB-KW 26580 \| BSCL2 \| UniProtKB-KW 10667 \| FARS2 \| UniProtKB-KW 57498 \| KIDINS220 \| UniProtKB-KW 7345 \| UCHL1 \| UniProtKB-KW 83636 \| C19orf12 \| UniProtKB-KW 6683 \| SPAST \| UniProtKB-KW 3897 \| L1CAM \| UniProtKB-KW;GHR 80208 \| SPG11 \| UniProtKB-KW 9895 \| TECPR2 \| CTD_human;UniProtKB-KW 10717 \| AP4B1 \| UniProtKB-KW 6687 \| SPG7 \| UniProtKB-KW 126129 \| CPT1C \| UniProtKB-KW 23431 \| AP4E1 \| UniProtKB-KW 9197 \| SLC33A1 \| UniProtKB-KW 123606 \| NIPA1 \| UniProtKB-KW 57531 \| HACE1 \| UniProtKB-KW 22978 \| NT5C2 \| UniProtKB-KW 11154 \| AP4S1 \| UniProtKB-KW 547 \| KIF1A \| CLINVAR;UniProtKB-KW 4099 \| MAG \| UniProtKB-KW 23400 \| ATP13A2 \| UniProtKB-KW 823 \| CAPN1 \| UniProtKB-KW 10613 \| ERLIN1 \| UniProtKB-KW 10908 \| PNPLA6 \| CTD_human;UniProtKB-KW 51062 \| ATL1 \| UniProtKB-KW 271 \| AMPD2 \| UniProtKB-KW 9907 \| AP5Z1 \| UniProtKB-KW 51324 \| SPG21 \| UniProtKB-KW 23111 \| SPG20 \| UniProtKB-KW;GHR 5354 \| PLP1 \| UniProtKB-KW 5832 \| ALDH18A1 \| UniProtKB-KW 79152 \| FA2H \| UniProtKB-KW 80821 \| DDHD1 \| UniProtKB-KW 23259 \| DDHD2 \| CLINVAR;UniProtKB-KW 137492 \| VPS37A \| UniProtKB-KW 23204 \| ARL6IP1 \| UniProtKB-KW 2583 \| B4GALNT1 \| UniProtKB-KW 118813 \| ZFYVE27 \| UniProtKB-KW 11160 \| ERLIN2 \| UniProtKB-KW 91574 \| C12orf65 \| UniProtKB-KW 9420 \| CYP7B1 \| CTD_human;UniProtKB-KW 3798 \| KIF5A \| UniProtKB-KW 953 \| ENTPD1 \| UniProtKB-KW 10342 \| TFG \| UniProtKB-KW 9179 \| AP4M1 \| UniProtKB-KW 113612 \| CYP2U1 \| UniProtKB-KW 57165 \| GJC2 \| UniProtKB-KW 51308 \| REEP2 \| UniProtKB-KW 65055 \| REEP1 \| UniProtKB-KW 200205 \| IBA57 \| UniProtKB-KW 23503 \| ZFYVE26 \| UniProtKB-KW 6253 \| RTN2 \| UniProtKB-KW 64837 \| KLC2 \| UniProtKB-KW 10084 \| PQBP1 \| CTD_human 57704 \| GBA2 \| UniProtKB-KW 9927 \| MFN2 \| ORPHANET 25778 \| DSTYK \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 65055 \| REEP1 \| CIPHER 6683 \| SPAST \| CIPHER 100359402 \| SPG41 \| CIPHER 9420 \| CYP7B1 \| CTD_human 10084 \| PQBP1 \| CTD_human 10908 \| PNPLA6 \| CTD_human 9895 \| TECPR2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:208) 26090 \| ABHD12 \| 1.481 \| DISEASES 10121 \| ACTR1A \| 2.4 \| DISEASES 55750 \| AGK \| 1.201 \| DISEASES 10555 \| AGPAT2 \| 3.352 \| DISEASES 64400 \| AKTIP \| 1.286 \| DISEASES 5832 \| ALDH18A1 \| 1.453 \| DISEASES 1174 \| AP1S1 \| 1.836 \| DISEASES 9179 \| AP4M1 \| 2.493 \| DISEASES 91056 \| AP5B1 \| 3.276 \| DISEASES 54840 \| APTX \| 1.574 \| DISEASES 393 \| ARHGAP4 \| 1.606 \| DISEASES 55210 \| ATAD3A \| 1.947 \| DISEASES 51062 \| ATL1 \| 7.078 \| DISEASES 64225 \| ATL2 \| 2.556 \| DISEASES 25923 \| ATL3 \| 2.465 \| DISEASES 23400 \| ATP13A2 \| 2.054 \| DISEASES 493 \| ATP2B4 \| 2.128 \| DISEASES 6311 \| ATXN2 \| 1.248 \| DISEASES 4287 \| ATXN3 \| 3.019 \| DISEASES 6314 \| ATXN7 \| 2.389 \| DISEASES 26053 \| AUTS2 \| 1.274 \| DISEASES 2583 \| B4GALNT1 \| 3.474 \| DISEASES 23299 \| BICD2 \| 4.198 \| DISEASES 653 \| BMP5 \| 1.169 \| DISEASES 655 \| BMP7 \| 2.572 \| DISEASES 659 \| BMPR2 \| 1.245 \| DISEASES 26580 \| BSCL2 \| 4.904 \| DISEASES 84529 \| C15orf41 \| 3.082 \| DISEASES 400359 \| C15orf53 \| 2.811 \| DISEASES 83636 \| C19orf12 \| 2.208 \| DISEASES 203228 \| C9orf72 \| 1.784 \| DISEASES 773 \| CACNA1A \| 1.476 \| DISEASES 785 \| CACNB4 \| 1.397 \| DISEASES 152137 \| CCDC50 \| 2.119 \| DISEASES 9973 \| CCS \| 1.395 \| DISEASES 8556 \| CDC14A \| 1.634 \| DISEASES 1003 \| CDH5 \| 3.155 \| DISEASES 1028 \| CDKN1C \| 3.143 \| DISEASES 55636 \| CHD7 \| 1.073 \| DISEASES 57680 \| CHD8 \| 1.271 \| DISEASES 1120 \| CHKB \| 1.176 \| DISEASES 5119 \| CHMP1A \| 2.162 \| DISEASES 57132 \| CHMP1B \| 2.739 \| DISEASES 10970 \| CKAP4 \| 1.671 \| DISEASES 54875 \| CNTLN \| 1.637 \| DISEASES 27255 \| CNTN6 \| 1.709 \| DISEASES 80347 \| COASY \| 1.152 \| DISEASES 53844 \| COPG2IT1 \| 3.119 \| DISEASES 84701 \| COX4I2 \| 1.251 \| DISEASES 10491 \| CRTAP \| 1.065 \| DISEASES 1490 \| CTGF \| 2.701 \| DISEASES 1499 \| CTNNB1 \| 1.303 \| DISEASES 2919 \| CXCL1 \| 2.367 \| DISEASES 6387 \| CXCL12 \| 1.588 \| DISEASES 113612 \| CYP2U1 \| 4.961 \| DISEASES 80067 \| DCAF17 \| 1.304 \| DISEASES 1639 \| DCTN1 \| 3.078 \| DISEASES 80821 \| DDHD1 \| 4.865 \| DISEASES 23259 \| DDHD2 \| 5.12 \| DISEASES 8788 \| DLK1 \| 1.126 \| DISEASES 3300 \| DNAJB2 \| 2.709 \| DISEASES 1785 \| DNM2 \| 1.537 \| DISEASES 1804 \| DPP6 \| 1.007 \| DISEASES 79075 \| DSCC1 \| 2.375 \| DISEASES 25778 \| DSTYK \| 2.786 \| DISEASES 1854 \| DUT \| 1.005 \| DISEASES 1778 \| DYNC1H1 \| 3.88 \| DISEASES 1781 \| DYNC1I2 \| 1.699 \| DISEASES 54583 \| EGLN1 \| 1.816 \| DISEASES 2060 \| EPS15 \| 2.092 \| DISEASES 51010 \| EXOSC3 \| 2.823 \| DISEASES 51571 \| FAM49B \| 1.844 \| DISEASES 283742 \| FAM98B \| 2.954 \| DISEASES 22862 \| FNDC3A \| 1.941 \| DISEASES 2395 \| FXN \| 1.827 \| DISEASES 57704 \| GBA2 \| 4.266 \| DISEASES 57733 \| GBA3 \| 1.842 \| DISEASES 2635 \| GBP3 \| 2.263 \| DISEASES 2643 \| GCH1 \| 1.561 \| DISEASES 2705 \| GJB1 \| 1.723 \| DISEASES 57165 \| GJC2 \| 4.383 \| DISEASES 149775 \| GNAS-AS1 \| 2.373 \| DISEASES 2887 \| GRB10 \| 3.037 \| DISEASES 2902 \| GRIN1 \| 1.203 \| DISEASES 3039 \| HBA1 \| 2.911 \| DISEASES 3178 \| HNRNPA1 \| 1.305 \| DISEASES 3198 \| HOXA1 \| 1.25 \| DISEASES 3329 \| HSPD1 \| 2.513 \| DISEASES 200205 \| IBA57 \| 1.965 \| DISEASES 3481 \| IGF2 \| 2.539 \| DISEASES 3482 \| IGF2R \| 2.332 \| DISEASES 10989 \| IMMT \| 1.534 \| DISEASES 9798 \| IST1 \| 3.756 \| DISEASES 83737 \| ITCH \| 2.939 \| DISEASES 56704 \| JPH1 \| 2.358 \| DISEASES 11104 \| KATNA1 \| 3.384 \| DISEASES 3748 \| KCNC3 \| 1.241 \| DISEASES 10984 \| KCNQ1OT1 \| 2.828 \| DISEASES 23303 \| KIF13B \| 3.044 \| DISEASES 547 \| KIF1A \| 4.322 \| DISEASES 10749 \| KIF1C \| 3.676 \| DISEASES 3798 \| KIF5A \| 5.742 \| DISEASES 3800 \| KIF5C \| 3.379 \| DISEASES 9314 \| KLF4 \| 1.87 \| DISEASES 3895 \| KTN1 \| 1.484 \| DISEASES 3897 \| L1CAM \| 4.995 \| DISEASES 3916 \| LAMP1 \| 1.288 \| DISEASES 1130 \| LYST \| 1.777 \| DISEASES 55384 \| MEG3 \| 2.4 \| DISEASES 4212 \| MEIS2 \| 1.431 \| DISEASES 317751 \| MESTIT1 \| 3.155 \| DISEASES 4326 \| MMP17 \| 1.41 \| DISEASES 4318 \| MMP9 \| 1.471 \| DISEASES 84545 \| MRPL43 \| 2.711 \| DISEASES 22921 \| MSRB2 \| 1.632 \| DISEASES 4535 \| MT-ND1 \| 2.122 \| DISEASES 4580 \| MTX1 \| 1.281 \| DISEASES 283446 \| MYO1H \| 3.138 \| DISEASES 123606 \| NIPA1 \| 5.88 \| DISEASES 57185 \| NIPAL3 \| 3.119 \| DISEASES 10528 \| NOP56 \| 2.5 \| DISEASES 27035 \| NOX1 \| 1.544 \| DISEASES 7827 \| NPHS2 \| 2 \| DISEASES 4897 \| NRCAM \| 3.887 \| DISEASES 4976 \| OPA1 \| 2.099 \| DISEASES 54681 \| P4HTM \| 1.069 \| DISEASES 55486 \| PARL \| 1.556 \| DISEASES 23089 \| PEG10 \| 2.047 \| DISEASES 5178 \| PEG3 \| 1.848 \| DISEASES 192111 \| PGAM5 \| 1.969 \| DISEASES 57649 \| PHF12 \| 1.084 \| DISEASES 55361 \| PI4K2A \| 1.393 \| DISEASES 8398 \| PLA2G6 \| 1.839 \| DISEASES 5325 \| PLAGL1 \| 2.143 \| DISEASES 25894 \| PLEKHG4 \| 1.158 \| DISEASES 285848 \| PNPLA1 \| 1.714 \| DISEASES 10908 \| PNPLA6 \| 4.476 \| DISEASES 375775 \| PNPLA7 \| 2.83 \| DISEASES 10631 \| POSTN \| 1.285 \| DISEASES 8541 \| PPFIA3 \| 1.978 \| DISEASES 9791 \| PTDSS1 \| 1.821 \| DISEASES 2185 \| PTK2B \| 1.134 \| DISEASES 5788 \| PTPRC \| 2.023 \| DISEASES 8437 \| RASAL1 \| 2.211 \| DISEASES 3516 \| RBPJ \| 1.134 \| DISEASES 1104 \| RCC1 \| 1.827 \| DISEASES 65055 \| REEP1 \| 6.218 \| DISEASES 7905 \| REEP5 \| 2.602 \| DISEASES 79621 \| RNASEH2B \| 2.526 \| DISEASES 6049 \| RNF6 \| 2.377 \| DISEASES 64221 \| ROBO3 \| 1.149 \| DISEASES 6093 \| ROCK1 \| 1.502 \| DISEASES 26750 \| RPS6KC1 \| 2.803 \| DISEASES 388015 \| RTL1 \| 2.372 \| DISEASES 10313 \| RTN3 \| 2.348 \| DISEASES 6275 \| S100A4 \| 6.294 \| DISEASES 26278 \| SACS \| 3.044 \| DISEASES 80031 \| SEMA6D \| 1.811 \| DISEASES 84947 \| SERAC1 \| 1.257 \| DISEASES 871 \| SERPINH1 \| 1.916 \| DISEASES 9990 \| SLC12A6 \| 3.351 \| DISEASES 123041 \| SLC24A4 \| 1.512 \| DISEASES 55676 \| SLC30A6 \| 2.674 \| DISEASES 9197 \| SLC33A1 \| 4.727 \| DISEASES 91252 \| SLC39A13 \| 1.94 \| DISEASES 6547 \| SLC8A3 \| 1.251 \| DISEASES 4088 \| SMAD3 \| 2.655 \| DISEASES 4090 \| SMAD5 \| 2.29 \| DISEASES 6606 \| SMN1 \| 1.037 \| DISEASES 6607 \| SMN2 \| 1.117 \| DISEASES 6641 \| SNTB1 \| 2.022 \| DISEASES 29907 \| SNX15 \| 3.616 \| DISEASES 80320 \| SP6 \| 1.469 \| DISEASES 6683 \| SPAST \| 7.82 \| DISEASES 23111 \| SPG20 \| 5.896 \| DISEASES 8878 \| SQSTM1 \| 1.642 \| DISEASES 8869 \| ST3GAL5 \| 1.492 \| DISEASES 29906 \| ST8SIA5 \| 3.363 \| DISEASES 6836 \| SURF4 \| 2.526 \| DISEASES 11346 \| SYNPO \| 1.865 \| DISEASES 10716 \| TBR1 \| 1.184 \| DISEASES 9895 \| TECPR2 \| 4.753 \| DISEASES 7042 \| TGFB2 \| 1.361 \| DISEASES 7046 \| TGFBR1 \| 1.124 \| DISEASES 7048 \| TGFBR2 \| 1.154 \| DISEASES 1678 \| TIMM8A \| 1.631 \| DISEASES 145942 \| TMCO5A \| 3.067 \| DISEASES 11076 \| TPPP \| 1.087 \| DISEASES 22906 \| TRAK1 \| 1.747 \| DISEASES 66008 \| TRAK2 \| 2.288 \| DISEASES 23321 \| TRIM2 \| 1.979 \| DISEASES 10100 \| TSPAN2 \| 1.684 \| DISEASES 7106 \| TSPAN4 \| 1.927 \| DISEASES 284076 \| TTLL6 \| 2.627 \| DISEASES 23025 \| UNC13A \| 1.378 \| DISEASES 10497 \| UNC13B \| 1.371 \| DISEASES 8633 \| UNC5C \| 1.162 \| DISEASES 57558 \| USP35 \| 2.778 \| DISEASES 7405 \| UVRAG \| 1.122 \| DISEASES 7415 \| VCP \| 2.648 \| DISEASES 79674 \| VEPH1 \| 2.323 \| DISEASES 51699 \| VPS29 \| 2.698 \| DISEASES 7454 \| WAS \| 1.267 \| DISEASES 653440 \| WASH6P \| 3.394 \| DISEASES 11152 \| WDR45 \| 1.303 \| DISEASES 7477 \| WNT7B \| 1.107 \| DISEASES 51530 \| ZC3HC1 \| 1.645 \| DISEASES 118813 \| ZFYVE27 \| 5.098 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1143
Disease	hereditary motor and sensory neuropathy v
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002079 \| Hypoplasia of the corpus callosum \| 15 HP:0001249 \| Mental retardation \| 3 HP:0009830 \| Peripheral neuritis \| 2 HP:0003477 \| Peripheral axonal neuropathy \| 2 HP:0001288 \| Gait disturbance \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0001337 \| Tremor \| 1 HP:0000518 \| Cataract \| 1 HP:0000505 \| Poor vision \| 1 HP:0007178 \| Motor polyneuropathy \| 1 HP:0003563 \| Hypobetalipoproteinemia \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0004841 \| Factor XII deficiency \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0001251 \| Ataxia \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1

Disease ID	1143
Disease	hereditary motor and sensory neuropathy v
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs367916692	24658845	9420	CYP7B1	umls:C0037773	BeFree	The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5.	0.121628651	2014	CYP7B1	8	64596914	G	A
rs66468541	18378094	3329	HSPD1	umls:C0037773	BeFree	We found that both the c.292G>A RNA transcript and the corresponding Hsp60-(p.Val98Ile) protein were present at comparable levels to their wild-type counterparts in SPG13 patient cells.	0.00408156	2008	HSPD1	2	197497275	C	T
rs66468541	18400758	3329	HSPD1	umls:C0037773	BeFree	The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.	0.00408156	2008	HSPD1	2	197497275	C	T
rs786200949	NA	547	KIF1A	umls:C0037773	CLINVAR	NA	0.12	NA	KIF1A	2	240788208	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1143
Disease	hereditary motor and sensory neuropathy v
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter