MCID: PRR020
MIFTS: 25

Perrault Syndrome 1

Categories: Genetic diseases, Ear diseases, Rare diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases, Fetal 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 11.4
2 d-bifunctional protein deficiency 10.9
3 perrault syndrome 3 10.9
4 perrault syndrome 2 10.9
5 perrault syndrome 4 10.9

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 talipes equinovarus 32 HP:0001762
14 areflexia 32 occasional (7.5%) HP:0001284
15 hyporeflexia 32 occasional (7.5%) HP:0001265
16 cerebellar atrophy 32 occasional (7.5%) HP:0001272
17 motor delay 32 occasional (7.5%) HP:0001270
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

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 Pathogenic rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
7 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Pathogenic rs587777442 GRCh37 Chromosome 5, 118792052: 118792052
8 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
9 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Pathogenic rs587777443 GRCh37 Chromosome 5, 118860954: 118860954
10 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Pathogenic rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
11 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Pathogenic 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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