MCID: MLP003
MIFTS: 10

Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

MalaCards integrated aliases for Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type:

Name: Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 52
Verloes Gillerot Fryns Syndrome 52 71
Male Pseudohermaphroditism-Mental Retardation Syndrome, Verloes Type 71
Disorder of Sex Development Intellectual Disability 52
Verloes-Gillerot-Fryns Syndrome 52
Verloes Syndrome 52

Classifications:



External Ids:

UMLS 71 C1838611 C2931233

Summaries for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2983 Definition Verloes-Gillerot-Fryns syndrome is a rare association of malformations. Epidemiology It has been described in only three patients, including two sibs. Clinical description The first patient had profound intellectual deficit. His general aspect clearly resembled that of individuals with Borjeson-Forssman-Lehmann syndrome, a rare X-linked recessive disorder. Clinical features included short stature , coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired and had microphthalmia and large ears, and short stature. She had a complete uterus with tubae and a single intraabdominal gonad with testicular organization at birth. These were removed during infancy. The third patient had severe hearing loss , ocular colobomata, hypogonadism of central origin, distinct craniofacial features resembling those of the Borjeson-Forssman-Lehmann syndrome and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. Diagnostic methods All patients had a normal 46, XY karyotype . Inheritance could be either autosomal recessive or X-linked . Visit the Orphanet disease page for more resources.

MalaCards based summary : Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type, also known as verloes gillerot fryns syndrome, is related to van maldergem syndrome and male pseudohermaphroditism/mental retardation syndrome, verloes type. Affiliated tissues include eye and uterus.

Related Diseases for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

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

# Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 11.5
2 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.2
3 van maldergem syndrome 1 11.2

Symptoms & Phenotypes for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

Drugs & Therapeutics for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

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Anatomical Context for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

MalaCards organs/tissues related to Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type:

40
Eye, Uterus

Publications for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

Variations for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

Expression for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

Search GEO for disease gene expression data for Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type.

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GO Terms for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

Sources for Male Pseudohermaphroditism Intellectual Disability Syndrome,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
37 LifeMap
39 LOVD
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44 MESH via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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