MCID: MLP006
MIFTS: 20

Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Categories: Endocrine diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

MalaCards integrated aliases for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

Name: Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 57
Male Pseudohermaphroditism-Mental Retardation Syndrome, Verloes Type 72
Disorder of Sex Development-Intellectual Disability Syndrome 59
Verloes Gillerot Fryns Syndrome 72
Verloes-Gillerot-Fryns Syndrome 59
Verloes Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
disorder of sex development-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
x-linked inheritance possible


HPO:

32
male pseudohermaphroditism/mental retardation syndrome, verloes type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600122
ICD10 via Orphanet 34 Q56.3
UMLS via Orphanet 73 C2931233
Orphanet 59 ORPHA2983
MedGen 42 C1838611
UMLS 72 C1838611 C2931233

Summaries for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

MalaCards based summary : Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type, also known as male pseudohermaphroditism-mental retardation syndrome, verloes type, is related to male pseudohermaphroditism intellectual disability syndrome, verloes type and van maldergem syndrome. Affiliated tissues include eye and bone, and related phenotypes are short neck and genu valgum

More information from OMIM: 600122

Related Diseases for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Diseases related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.7
2 van maldergem syndrome 11.5
3 van maldergem syndrome 1 11.2

Symptoms & Phenotypes for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Human phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
7 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
8 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
9 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
10 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
11 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
12 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
13 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
14 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
15 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
16 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
17 spina bifida occulta 59 32 hallmark (90%) Very frequent (99-80%) HP:0003298
18 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
19 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
20 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
21 severe sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008625
22 obesity 32 HP:0001513
23 coarse facial features 32 HP:0000280
24 absent speech 32 HP:0001344
25 postnatal growth retardation 32 HP:0008897
26 chorioretinal coloboma 32 HP:0000567
27 abnormality of the face 59 Very frequent (99-80%)
28 abnormal hair pattern 59 Very frequent (99-80%)
29 male pseudohermaphroditism 32 HP:0000037
30 bilateral microphthalmos 32 HP:0007633
31 narrow palpebral fissure 32 HP:0045025
32 cervical spina bifida 32 HP:0005857

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
low posterior hairline
lateral neck webbing

Skin Nails Hair Hair:
low posterior hairline

Skeletal Spine:
cervical spina bifida

Head And Neck Eyes:
deep-set eyes
coloboma of choroid
small eyes
temporal displacement of maculae

Growth Other:
postnatal growth deficiency

Growth Weight:
obesity

Genitourinary External Genitalia Male:
male pseudohermaphroditism
sexual ambiguity

Head And Neck Face:
coarse facies

Neurologic Central Nervous System:
mental retardation, mild to profound
no speech development (in some patients)

Head And Neck Ears:
sensorineural hearing loss, severe

Clinical features from OMIM:

600122

Drugs & Therapeutics for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Search Clinical Trials , NIH Clinical Center for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Genetic Tests for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Anatomical Context for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

MalaCards organs/tissues related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

41
Eye, Bone

Publications for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Articles related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type:

# Title Authors PMID Year
1
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type. 8
8031539 1994
2
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? 8
2098045 1990

Variations for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Expression for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Search GEO for disease gene expression data for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type.

Pathways for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

GO Terms for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

Sources for Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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