PRLTS1
MCID: PRR020
MIFTS: 33

Perrault Syndrome 1 (PRLTS1)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Perrault Syndrome 1

MalaCards integrated aliases for Perrault Syndrome 1:

Name: Perrault Syndrome 1 57 75 29 13 6
Ovarian Dysgenesis with Sensorineural Deafness 57 75
Prlts1 57 75
Gonadal Dysgenesis, Xx Type, with Deafness 57
Gonadal Dysgenesis Xx Type with Deafness 75
Gonadal Dysgenesis Xx Type Deafness 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of deafness in early childhood
affected females are infertile
some females have only deafness and ovarian dysgenesis without neurologic abnormalities
affected males have normal pubertal development and are fertile


HPO:

32
perrault syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Perrault Syndrome 1

OMIM : 57 Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010). Pierce et al. (2010) noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. (233400)

MalaCards based summary : Perrault Syndrome 1, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome and d-bifunctional protein deficiency. An important gene associated with Perrault Syndrome 1 is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4). Affiliated tissues include ovary, and related phenotypes are high palate and nystagmus

UniProtKB/Swiss-Prot : 75 Perrault syndrome 1: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.

Related Diseases for Perrault Syndrome 1

Diseases in the Perrault Syndrome family:

Perrault Syndrome 1 Perrault Syndrome 3
Perrault Syndrome 2 Perrault Syndrome 4
Perrault Syndrome 5 Perrault Syndrome 6

Diseases related to Perrault Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 11.5
2 d-bifunctional protein deficiency 11.1
3 perrault syndrome 3 11.1
4 perrault syndrome 2 11.1
5 perrault syndrome 4 11.1
6 3-methylglutaconic aciduria, type iii 10.4 OPA2 OPA4 OPA6
7 autosomal dominant cerebellar ataxia 10.4 SCA30 SCA32 SCA9
8 orofacial cleft 10.3 OFC1 OFC2 OFC3

Graphical network of the top 20 diseases related to Perrault Syndrome 1:



Diseases related to Perrault Syndrome 1

Symptoms & Phenotypes for Perrault Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
limited extraocular movements

Skeletal Feet:
pes cavus
pes equinovarus

Growth Other:
growth retardation

Endocrine Features:
amenorrhea, primary
increased gonadotropin levels
low estradiol

Neurologic Central Nervous System:
cognitive impairment (in some patients)
delayed motor development (in some patients)
ataxic gait (in some patients)
spastic diplegia (in some patients)
dysarthria (in some patients)
more
Genitourinary External Genitalia Female:
immature genitalia

Laboratory Abnormalities:
decreased beta-oxidation of pristanic acid

Skeletal Spine:
scoliosis

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)
areflexia (in some patients)

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
streak gonads
small ovaries
lack of ovaries

Muscle Soft Tissue:
weakness of the lower limbs


Clinical features from OMIM:

233400

Human phenotypes related to Perrault Syndrome 1:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 nystagmus 32 HP:0000639
3 dysarthria 32 occasional (7.5%) HP:0001260
4 scoliosis 32 HP:0002650
5 sensorineural hearing impairment 32 HP:0000407
6 short stature 32 HP:0004322
7 cognitive impairment 32 occasional (7.5%) HP:0100543
8 osteoporosis 32 HP:0000939
9 increased circulating gonadotropin level 32 HP:0000837
10 primary amenorrhea 32 HP:0000786
11 gait ataxia 32 HP:0002066
12 pes cavus 32 HP:0001761
13 motor delay 32 occasional (7.5%) HP:0001270
14 talipes equinovarus 32 HP:0001762
15 areflexia 32 occasional (7.5%) HP:0001284
16 hyporeflexia 32 occasional (7.5%) HP:0001265
17 cerebellar atrophy 32 occasional (7.5%) HP:0001272
18 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
19 gonadal dysgenesis 32 HP:0000133
20 spastic diplegia 32 occasional (7.5%) HP:0001264
21 limited extraocular movements 32 HP:0007941

Drugs & Therapeutics for Perrault Syndrome 1

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 1

Genetic Tests for Perrault Syndrome 1

Genetic tests related to Perrault Syndrome 1:

# Genetic test Affiliating Genes
1 Perrault Syndrome 1 29 AA1 AA2 AANAT ACLS AD5 ADFN AF8T AFA AFD1 AGMX2 AGTR2 AIC AIH3 AIS1 AIS2 AIS3 AKR1C2 ALS3 ALS5 ALS7 AMCN ANIB1 ANIB2 ANIB3 ANIB4 ANOP1 APBB2 APMR2 ARVD3 ARVD4 ASD1 ASDP ATD ATHS AUNX1 AVSD1 AZF1 BANK1 BDNF BLMH BMIQ1 BMIQ2 BMIQ3 BMIQ5 BMIQ6 BRCA3 CACD CANDN1 CCA1 CCAL1 CCT CCV CDAN3 CDB2 CDKAL1 CELIAC2 CGF1 CKBE CLA3 CLAM CLN9 CMD1B CMD1H CMD1K CMD1Q CMM CMT2G CMTX2 CMTX3 CNA1 CNC2 COD2 COL5A2 CORD1 CORD17 CORD8 CPAT1 CRCS6 CRCS7 CTAA1 CTAA2 CTD CTNND2 CTPL1 CTPP5 CXB3S CYMD CYP4F22 DAO DDU DEL16P11.2 DFNA16 DFNA18 DFNA21 DFNA24 DFNA30 DFNA31 DFNA33 DFNA43 DFNA47 DFNA49 DFNA53 DFNA54 DFNA58 DFNA59 DFNA7 DFNB13 DFNB14 DFNB17 DFNB20 DFNB27 DFNB32 DFNB33 DFNB38 DFNB40 DFNB45 DFNB46 DFNB47 DFNB5 DFNB51 DFNB55 DFNB62 DFNB65 DFNB71 DFNB81 DFNB83 DFNB85 DFNB96 DFNM1 DFNX3 DFNY1 DIANPH DIH1 DNAJC13 DRD2 DURS1 DWS DYT13 DYT15 DYT17 DYT2 DYT21 DYT7 DYX1 DYX3 DYX5 DYX6 DYX8 DYX9 E11S EBM EBR3 ECA1 EEC1 EEGV1 EGI EGID-107985613 EJM2 EJM4 EKD2 EMWX EN2 ENUR1 ENUR2 ETL4 ETM2 EVR3 EXT3 FCMTE1 FCMTE2 FCP1 FEB1 FEB2 FEB5 FEB6 FEB7 FGS2 FGS3 FGS5 FRDA2 FSHMD1A FSHMD1B FUSE GBD2 GBD3 GCY GINGF2 GINGF3 GINGF4 GLC1B GLC1C GLC1D GLC1H GLC1I GLC1J GLC1K GLC1M GLC1N GLC1P GLC3B GLC3C GLYS1 GOLGA5 GPDS1 GSM1 GTS HAVCR1 HCL2 HCVS HDLCQ1 HPCX HPE1 HPFH2 HPLH1 HPP1 HPT HTC1 HTC2 HYD2 IBD2 IBD3 IBD4 IBD5 IBD6 IBD7 IBD8 IBD9 IBGC1 IDDM11 IDDM13 IDDM15 IDDM17 IDDM18 IDDM3 IDDM4 IDDM6 IDDM7 IDDM8 IGAD1 IGES IHG1 IQSEC2 IV JBS KIAA0319 KIRREL3 KWE LCS1 LFS3 LGMD1G LGMD1H MAA MACOM MAFD1 MAFD2 MAFD4 MAPK10 MASTL MBS1 MBS2 MBS3 MBTPS2 MCDR1 MCDR3 MCS MDRV ME2 MEHMO MGS MHAC MHS2 MHS4 MHS6 MLLT11 MMVP1 MMVP2 MMVP3 MROS MRSD MRSS MRT10 MRT11 MRT17 MRT19 MRT23 MRT24 MRT25 MRT27 MRT28 MRT32 MRT4 MRT8 MRT9 MRX14 MRX20 MRX23 MRX42 MRX49 MRX50 MRX53 MRX73 MRX77 MRX81 MRX82 MRX84 MRXS11 MRXS7 MS MSD MSPC MT-ND3 MT-TD MT-TH MT-TL2 MT-TM MT-TN MT-TR MT-TY MYMY1 MYMY3 MYO1A MYP1 MYP10 MYP11 MYP12 MYP13 MYP14 MYP15 MYP16 MYP17 MYP18 MYP2 MYP3 MYP5 MYP7 MYP8 MYP9 NIDDM1 NIDDM2 NKS1 NM NNO1 NNO3 NYS2 NYS3 NYS4 OAS1 OASD OCA5 OFC1 OFC2 OFC3 OPA2 OPA4 OPA5 OPA6 OPA8 OPEM OTSC1 OTSC10 OTSC2 OTSC3 OTSC4 OTSC5 OTSC7 OTSC8 OVOL2 P2RX1 PARK10 PARK12 PARK16 PARK3 PAXIP1 PBCRA1 PCAP PCM1 PCOS1 PDB1 PDB4 PDR PEE1 PFM3 PHF11 PKD3 PLEKHA1 PNKD PPR1 PRD PRICKLE2 PRS PSNP3 PSORS10 PSORS3 PSORS4 PSORS5 PSORS6 PSORS7 PSORS8 PSORS9 PTLAH PTLS PTOS1 PTPRZ1 RAB40AL RCD1 RDPA RHDNS1 RIEG2 RMD1 RP22 RP24 RP29 RP32 RP34 RP6 RP63 RSS RXFP2 SAT1 SAX1 SCA18 SCA20 SCA25 SCA26 SCA30 SCA32 SCA37 SCA9 SCAR3 SCASI SCAX2 SCAX3 SCAX4 SCZD1 SCZD10 SCZD2 SCZD3 SCZD6 SCZD7 SCZD8 SELE SELP SFTPA1 SHFM2 SHFM3 SHFM5 SLC30A10 SLEB3 SLEH1 SLEN1 SLEN2 SLEN3 SORL1 SPG14 SPG16 SPG19 SPG23 SPG24 SPG25 SPG27 SPG29 SPG32 SPG34 SPG36 SPG37 SPG38 SPG41 SPG45 SPG5B ST3 ST8 STOM STQTL6 STQTL7 STQTL8 STUT1 STUT2 TAPVR1 TEC TELAB1 TGCT1 THAS THM TKCR TLR4 TRICY1 TRIM24 TRIM33 TSG101 TYS USH1E USH1H USH1K UTP4 VDI VMD1 VUR WS2B WT2 XM ZNF41 ZNF592 ZNF674 ZNF81

Anatomical Context for Perrault Syndrome 1

MalaCards organs/tissues related to Perrault Syndrome 1:

41
Ovary

Publications for Perrault Syndrome 1

Variations for Perrault Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 HSD17B4 p.Tyr217Cys VAR_065907 rs387906825

ClinVar genetic disease variations for Perrault Syndrome 1:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
2 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh38 Chromosome 5, 119509176: 119509176
3 HSD17B4 NM_000414.3(HSD17B4): c.650A> G (p.Tyr217Cys) single nucleotide variant Pathogenic rs387906825 GRCh37 Chromosome 5, 118824914: 118824914
4 HSD17B4 NM_000414.3(HSD17B4): c.650A> G (p.Tyr217Cys) single nucleotide variant Pathogenic rs387906825 GRCh38 Chromosome 5, 119489219: 119489219
5 HSD17B4 HSD17B4, TYR568TER undetermined variant Pathogenic
6 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Uncertain significance rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
7 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Uncertain significance rs587777442 GRCh37 Chromosome 5, 118792052: 118792052
8 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Likely pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
9 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Likely pathogenic rs587777443 GRCh37 Chromosome 5, 118860954: 118860954
10 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
11 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs587777444 GRCh37 Chromosome 5, 118860945: 118860945
12 HSD17B4 NM_000414.3(HSD17B4): c.1628G> C (p.Arg543Pro) single nucleotide variant Pathogenic rs201009485 GRCh38 Chromosome 5, 119525971: 119525971
13 HSD17B4 NM_000414.3(HSD17B4): c.1628G> C (p.Arg543Pro) single nucleotide variant Pathogenic rs201009485 GRCh37 Chromosome 5, 118861666: 118861666
14 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh37 Chromosome 5, 118850709: 118850709
15 HSD17B4 NM_000414.3(HSD17B4): c.1471G> A (p.Ala491Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28943591 GRCh38 Chromosome 5, 119515014: 119515014
16 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578
17 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh37 Chromosome 5, 118788273: 118788273
18 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh38 Chromosome 5, 119477487: 119477487
19 HSD17B4 NM_000414.3(HSD17B4): c.420A> T (p.Lys140Asn) single nucleotide variant Benign/Likely benign rs28943589 GRCh37 Chromosome 5, 118813182: 118813182
20 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh38 Chromosome 5, 119541965: 119541965
21 HSD17B4 NM_000414.3(HSD17B4): c.2182A> G (p.Met728Val) single nucleotide variant Benign/Likely benign rs28943594 GRCh37 Chromosome 5, 118877660: 118877660
22 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh37 Chromosome 5, 118877677: 118877677
23 HSD17B4 NM_000414.3(HSD17B4): c.2199C> T (p.Tyr733=) single nucleotide variant Benign/Likely benign rs12714 GRCh38 Chromosome 5, 119541982: 119541982
24 HSD17B4 NM_000414.3(HSD17B4): c.1280C> T (p.Ala427Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28943590 GRCh37 Chromosome 5, 118842531: 118842531
25 HSD17B4 NM_000414.3(HSD17B4): c.1280C> T (p.Ala427Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28943590 GRCh38 Chromosome 5, 119506836: 119506836

Expression for Perrault Syndrome 1

Search GEO for disease gene expression data for Perrault Syndrome 1.

Pathways for Perrault Syndrome 1

GO Terms for Perrault Syndrome 1

Sources for Perrault Syndrome 1

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