MCID: MST010
MIFTS: 6

Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia

Categories: Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

MalaCards integrated aliases for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia:

Name: Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 52
Skin Mastocytosis Hearing Loss Microcephaly Mild Dysmorphic Features and Severe Mental Retardation 52
Hennekam Beemer Syndrome 52

Classifications:



Summaries for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2135 Definition Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature , microcephaly , conductive hearing loss , and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia, also known as skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation, is related to cutaneous mastocytosis, conductive hearing loss and microtia. Affiliated tissues include skin.

Related Diseases for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Diseases related to Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cutaneous mastocytosis, conductive hearing loss and microtia 11.5

Symptoms & Phenotypes for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Drugs & Therapeutics for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Search Clinical Trials , NIH Clinical Center for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia

Genetic Tests for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Anatomical Context for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

MalaCards organs/tissues related to Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia:

40
Skin

Publications for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Articles related to Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia:

# Title Authors PMID Year
1
Skin mastocytosis, hearing loss and mental retardation. 61
1345517 1992

Variations for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Expression for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Search GEO for disease gene expression data for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia.

Pathways for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

GO Terms for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

Sources for Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss...

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
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....