PRLTS1
MCID: PRR020
MIFTS: 34

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 72 29 13 6
Ovarian Dysgenesis with Sensorineural Deafness 57 72
Prlts1 57 72
Gonadal Dysgenesis, Xx Type, with Deafness 57
Gonadal Dysgenesis Xx Type with Deafness 72
Gonadal Dysgenesis Xx Type Deafness 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
perrault syndrome 1:
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) (Updated 05-Apr-2021)

MalaCards based summary : Perrault Syndrome 1, also known as ovarian dysgenesis with sensorineural deafness, is related to d-bifunctional protein deficiency and perrault syndrome 4. An important gene associated with Perrault Syndrome 1 is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4). Related phenotypes are dysarthria and cognitive impairment

UniProtKB/Swiss-Prot : 72 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

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



Diseases related to Perrault Syndrome 1

Symptoms & Phenotypes for Perrault Syndrome 1

Human phenotypes related to Perrault Syndrome 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 occasional (7.5%) HP:0001260
2 cognitive impairment 31 occasional (7.5%) HP:0100543
3 motor delay 31 occasional (7.5%) HP:0001270
4 areflexia 31 occasional (7.5%) HP:0001284
5 hyporeflexia 31 occasional (7.5%) HP:0001265
6 cerebellar atrophy 31 occasional (7.5%) HP:0001272
7 spastic diplegia 31 occasional (7.5%) HP:0001264
8 sensorimotor neuropathy 31 occasional (7.5%) HP:0007141
9 scoliosis 31 HP:0002650
10 nystagmus 31 HP:0000639
11 high palate 31 HP:0000218
12 sensorineural hearing impairment 31 HP:0000407
13 short stature 31 HP:0004322
14 increased circulating gonadotropin level 31 HP:0000837
15 osteoporosis 31 HP:0000939
16 primary amenorrhea 31 HP:0000786
17 talipes equinovarus 31 HP:0001762
18 pes cavus 31 HP:0001761
19 gait ataxia 31 HP:0002066
20 gonadal dysgenesis 31 HP:0000133
21 limited extraocular movements 31 HP:0007941

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
pes equinovarus

Head And Neck Mouth:
high-arched palate

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

Head And Neck Eyes:
nystagmus
limited extraocular movements

Growth Other:
growth retardation

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 (Updated 05-Apr-2021)

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 HSD17B4

Anatomical Context for Perrault Syndrome 1

Publications for Perrault Syndrome 1

Articles related to Perrault Syndrome 1:

(show all 31)
# Title Authors PMID Year
1
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 57 6
24553428 2014
2
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 6 57
23181892 2012
3
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 57 6
20673864 2010
4
Perrault syndrome: evidence for progressive nervous system involvement. 57 6
15216544 2004
5
Perrault syndrome in sisters. 6 57
4061497 1985
6
Expanding the genotypic spectrum of Perrault syndrome. 6
26970254 2017
7
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. 6
27790638 2016
8
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 6
27528516 2016
9
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
10
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 6
25967389 2015
11
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 6
25882080 2015
12
On the molecular basis of D-bifunctional protein deficiency type III. 6
23308274 2013
13
Perrault syndrome: further evidence for genetic heterogeneity. 57
22037954 2012
14
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 6
22864515 2012
15
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 57
21464306 2011
16
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. 57
18241061 2008
17
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 6
16385454 2006
18
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. 6
11810648 2002
19
Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. 6
10748062 2000
20
Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. 6
10497229 1999
21
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 6
10400999 1999
22
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. 6
10419023 1999
23
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 6
9915948 1999
24
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 6
9482850 1998
25
Neurologic anomalies of Perrault syndrome. 57
8923934 1996
26
Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? 57
8030674 1994
27
The Perrault syndrome: clinical report and review. 57
3067578 1988
28
Perrault's syndrome in two sisters. 57
6650568 1983
29
Familial gonadal dysgenesis. 57
5458581 1970
30
Gonadal dysgenesis as an autosomal recessive condition. 57
5794832 1969
31
[FAMILIAL TURNER'S SYNDROME. STUDY OF 2 FAMILIES WITH XO AND XX KARYOTYPES]. 57
14122073 1963

Variations for Perrault Syndrome 1

ClinVar genetic disease variations for Perrault Syndrome 1:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD17B4 NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) SNV Pathogenic 30228 rs387906825 GRCh37: 5:118824914-118824914
GRCh38: 5:119489219-119489219
2 HSD17B4 NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) SNV Pathogenic 137618 rs587777444 GRCh37: 5:118860945-118860945
GRCh38: 5:119525250-119525250
3 HSD17B4 NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) SNV Pathogenic 137619 rs201009485 GRCh37: 5:118861666-118861666
GRCh38: 5:119525971-119525971
4 HSD17B4 NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) Deletion Pathogenic 582190 rs1561485663 GRCh37: 5:118861613-118861613
GRCh38: 5:119525918-119525918
5 HSD17B4 NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) Microsatellite Pathogenic 371505 rs1057517323 GRCh37: 5:118861665-118861666
GRCh38: 5:119525970-119525971
6 HSD17B4 NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) SNV Pathogenic 861128 GRCh37: 5:118835186-118835186
GRCh38: 5:119499491-119499491
7 HSD17B4 NM_000414.4(HSD17B4):c.1715_1716CT[1] (p.Leu573fs) Microsatellite Pathogenic 371008 rs1057516936 GRCh37: 5:118862862-118862863
GRCh38: 5:119527167-119527168
8 HSD17B4 NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) Deletion Pathogenic 854726 GRCh37: 5:118844853-118844853
GRCh38: 5:119509158-119509158
9 HSD17B4 NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) SNV Pathogenic 939009 GRCh37: 5:118844926-118844926
GRCh38: 5:119509231-119509231
10 HSD17B4 NM_000414.4(HSD17B4):c.58+1G>C SNV Pathogenic 945823 GRCh37: 5:118788329-118788329
GRCh38: 5:119452634-119452634
11 HSD17B4 NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) Microsatellite Pathogenic 949620 GRCh37: 5:118861693-118861694
GRCh38: 5:119525998-119525999
12 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 GRCh37: 5:118862851-118862851
GRCh38: 5:119527156-119527156
13 HSD17B4 NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) SNV Pathogenic 551750 rs751646311 GRCh37: 5:118872153-118872153
GRCh38: 5:119536458-119536458
14 HSD17B4 NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV Pathogenic 655256 rs1038744864 GRCh37: 5:118862851-118862851
GRCh38: 5:119527156-119527156
15 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) SNV Pathogenic 375673 rs74315437 GRCh37: 21:37833740-37833740
GRCh38: 21:36461442-36461442
16 HSD17B4 NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) SNV Pathogenic 7656 rs137853097 GRCh37: 5:118844871-118844871
GRCh38: 5:119509176-119509176
17 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 GRCh37: 3:45537808-45537808
GRCh38: 3:45496316-45496316
18 HSD17B4 NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) Deletion Pathogenic 504023 rs758055753 GRCh37: 5:118832304-118832305
GRCh38: 5:119496609-119496610
19 HSD17B4 NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) SNV Pathogenic 137616 rs587777442 GRCh37: 5:118792052-118792052
GRCh38: 5:119456357-119456357
20 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 GRCh37: 5:118788316-118788316
GRCh38: 5:119452621-119452621
21 HSD17B4 NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV Pathogenic 7655 rs137853096 GRCh37: 5:118788316-118788316
GRCh38: 5:119452621-119452621
22 HSD17B4 NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) SNV Pathogenic 371366 rs969485098 GRCh37: 5:118829515-118829515
GRCh38: 5:119493820-119493820
23 HSD17B4 NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) SNV Pathogenic 137617 rs587777443 GRCh37: 5:118860954-118860954
GRCh38: 5:119525259-119525259
24 HSD17B4 NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) SNV Pathogenic 495866 rs766199971 GRCh37: 5:118860923-118860923
GRCh38: 5:119525228-119525228
25 HSD17B4 NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) SNV Likely pathogenic 495866 rs766199971 GRCh37: 5:118860923-118860923
GRCh38: 5:119525228-119525228
26 HSD17B4 NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) SNV Likely pathogenic 859562 GRCh37: 5:118788271-118788271
GRCh38: 5:119452576-119452576
27 HSD17B4 NM_000414.4(HSD17B4):c.1210-11C>G SNV Likely pathogenic 559071 rs779466683 GRCh37: 5:118837725-118837725
GRCh38: 5:119502030-119502030
28 HSD17B4 NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) SNV Likely pathogenic 7656 rs137853097 GRCh37: 5:118844871-118844871
GRCh38: 5:119509176-119509176
29 HSD17B4 NM_000414.4(HSD17B4):c.868+1del Deletion Likely pathogenic 632857 rs749532705 GRCh37: 5:118829641-118829641
GRCh38: 5:119493946-119493946
30 HSD17B4 NC_000005.10:g.(?_119514971)_(119542004_?)del Deletion Likely pathogenic 831796 GRCh37: 5:118850666-118877699
GRCh38:
31 PRORP NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) SNV Likely pathogenic 638208 rs1169927428 GRCh37: 14:35739636-35739636
GRCh38: 14:35270430-35270430
32 LARS2 NM_015340.4(LARS2):c.457A>C (p.Asn153His) SNV Likely pathogenic 191173 rs786205560 GRCh37: 3:45461162-45461162
GRCh38: 3:45419670-45419670
33 HSD17B4 NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) SNV Likely pathogenic 225388 rs1085307072 GRCh37: 5:118788273-118788273
GRCh38: 5:119452578-119452578
34 HSD17B4 NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) SNV Uncertain significance 350466 rs372898042 GRCh37: 5:118844859-118844859
GRCh38: 5:119509164-119509164
35 HSD17B4 NM_000414.4(HSD17B4):c.1596T>C (p.His532=) SNV Uncertain significance 350467 rs758045328 GRCh37: 5:118861634-118861634
GRCh38: 5:119525939-119525939
36 HSD17B4 NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) SNV Uncertain significance 655470 rs757346346 GRCh37: 5:118835129-118835129
GRCh38: 5:119499434-119499434
37 HSD17B4 NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) SNV Uncertain significance 642085 rs763390035 GRCh37: 5:118862847-118862847
GRCh38: 5:119527152-119527152
38 HSD17B4 NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) SNV Uncertain significance 350462 rs886059821 GRCh37: 5:118827798-118827798
GRCh38: 5:119492103-119492103
39 HSD17B4 NM_000414.4(HSD17B4):c.*134C>T SNV Uncertain significance 350472 rs543194892 GRCh37: 5:118877823-118877823
GRCh38: 5:119542128-119542128
40 HSD17B4 NM_000414.4(HSD17B4):c.*235T>C SNV Uncertain significance 350474 rs553631151 GRCh37: 5:118877924-118877924
GRCh38: 5:119542229-119542229
41 HSD17B4 NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) SNV Uncertain significance 350460 rs141517981 GRCh37: 5:118809651-118809651
GRCh38: 5:119473956-119473956
42 HSD17B4 NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) SNV Uncertain significance 350464 rs373503389 GRCh37: 5:118832312-118832312
GRCh38: 5:119496617-119496617
43 HSD17B4 NM_000414.4(HSD17B4):c.1854+7T>C SNV Uncertain significance 350469 rs886059822 GRCh37: 5:118865682-118865682
GRCh38: 5:119529987-119529987
44 HSD17B4 NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) SNV Uncertain significance 350461 rs28943588 GRCh37: 5:118810143-118810143
GRCh38: 5:119474448-119474448
45 HSD17B4 NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) SNV Uncertain significance 350470 rs763204818 GRCh37: 5:118872149-118872149
GRCh38: 5:119536454-119536454
46 HSD17B4 NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) SNV Uncertain significance 350465 rs200347945 GRCh37: 5:118835170-118835170
GRCh38: 5:119499475-119499475
47 HSD17B4 NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) SNV Uncertain significance 350463 rs543710228 GRCh37: 5:118829584-118829584
GRCh38: 5:119493889-119493889
48 HSD17B4 NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) SNV Uncertain significance 350466 rs372898042 GRCh37: 5:118844859-118844859
GRCh38: 5:119509164-119509164
49 HSD17B4 NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) SNV Uncertain significance 904272 GRCh37: 5:118829563-118829563
GRCh38: 5:119493868-119493868
50 HSD17B4 NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) SNV Uncertain significance 904408 GRCh37: 5:118872157-118872157
GRCh38: 5:119536462-119536462

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

72
# Symbol AA change Variation ID SNP ID
1 HSD17B4 p.Tyr217Cys VAR_065907 rs387906825

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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