MCID: MNT146
MIFTS: 29

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Fetal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Name: Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 54 12 24 71 29 13
Martin-Probst Deafness-Mental Retardation Syndrome 24 71 69
Deafness-Intellectual Disability, Martin-Probst Type Syndrome 12 14
Martin-Probst Syndrome 12 56
Mrxsmp 24 71
Deafness-Intellectual Disability Syndrome, Martin-Probst Type 56
X-Linked Deafness-Intellectual Disability Syndrome Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
deafness-intellectual disability syndrome, martin-probst type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
three males in 1 family have been reported (last curated august 2012)


HPO:

32
mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot : 71 Mental retardation, X-linked, syndromic, Martin-Probst type: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Martin-Probst Type, also known as martin-probst deafness-mental retardation syndrome, is related to choroideremia and sensorineural hearing loss, and has symptoms including short stature, wide mouth and umbilical hernia. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include skin and kidney.

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has material basis in variation on the X chromosome.

Description from OMIM: 300519

Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 choroideremia 10.3
2 sensorineural hearing loss 10.1
3 46xx sex reversal 1 8.9 BHLHE22 MRXSMP RAB40AL

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Symptoms via clinical synopsis from OMIM:

54

Abdomen- External Features:
umbilical hernia

Head And Neck- Face:
micrognathia
malar hypoplasia

Head And Neck- Nose:
broad nasal root

Head And Neck- Mouth:
broad mouth
full lower lip

Head And Neck- Teeth:
dental malocclusion
abnormal teeth

Head And Neck- Head:
microcephaly (in 2 of 3 siblings)

Genitourinary- Internal Genitalia Male:
cryptorchidism (in 1 of 3 siblings)
absence of the vas deferens and epididymis (in 1 of 3 siblings)

Skin Nails & Hair- Skin:
telangiectasias

Hematology:
pancytopenia (in 2 of 3 siblings)

Head And Neck- Ears:
low-set ears
hearing loss, sensorineural, severe to profound

Head And Neck- Eyes:
epicanthal folds
hypertelorism
telecanthus
myopia (in 2 of 3 siblings)

Chest- Breasts:
widely spaced nipples
hypoplastic nipples

Neurologic- Central Nervous System:
mental retardation, mild to severe

Growth- Height:
short stature (in 2 of 3 siblings)

Genitourinary- External Genitalia Male:
bifid scrotum (in 1 of 3 siblings)
small phallus (in 1 of 3 siblings)

Genitourinary- Kidneys:
hypoplastic kidneys (in 2 of 3 siblings)
proteinuria (in 2 of 3 siblings)
renal insufficiency (in 2 of 3 siblings)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)


Clinical features from OMIM:

300519

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
3 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
7 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
8 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
9 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
10 cryptorchidism 56 32 occasional (7.5%) Frequent (79-30%) HP:0000028
11 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
12 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
13 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
14 bifid scrotum 56 32 occasional (7.5%) Frequent (79-30%) HP:0000048
15 pancytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001876
16 renal hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000089
17 renal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000110
18 blepharophimosis 56 32 frequent (33%) Frequent (79-30%) HP:0000581
19 hypothyroidism 56 32 occasional (7.5%) Frequent (79-30%) HP:0000821
20 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
21 dental malocclusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000689
22 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
23 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
24 intellectual disability, moderate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002342
25 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
26 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
27 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
28 abnormal dermatoglyphics 56 32 hallmark (90%) Very frequent (99-80%) HP:0007477
29 wide intermamillary distance 56 32 hallmark (90%) Very frequent (99-80%) HP:0006610
30 aplasia/hypoplasia of the nipples 56 32 hallmark (90%) Very frequent (99-80%) HP:0006709
31 proteinuria 32 frequent (33%) HP:0000093
32 micropenis 32 occasional (7.5%) HP:0000054
33 hypertelorism 32 HP:0000316
34 intellectual disability 32 HP:0001249
35 hypoplastic nipples 32 HP:0002557
36 telangiectasia 32 HP:0001009
37 hearing impairment 32 HP:0000365
38 abnormality of the teeth 56 Very frequent (99-80%)
39 teleangiectasia of the skin 56 Frequent (79-30%)
40 telangiectasia of the skin 32 frequent (33%) HP:0100585

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

id Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29 24 RAB40AL

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

39
Skin, Kidney

Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

71
id Symbol AA change Variation ID SNP ID
1 RAB40AL p.Asp59Gly VAR_068916 rs145606134

Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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