MCID: PNF001
MIFTS: 8

Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

MalaCards integrated aliases for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome:

Name: Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 52 58
Multiple Orbital Neurofibromas, Painful Peripheral Nerve Tumors, Distinctive Face and Marfanoid Habitus 52

Characteristics:

Orphanet epidemiological data:

58
painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA300501

Summaries for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300501 Definition Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis , proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone. Visit the Orphanet disease page for more resources.

MalaCards based summary : Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome, also known as multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus, is related to neurofibromatosis, type i and multiple endocrine neoplasia, type iib.

Related Diseases for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Diseases related to Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type i 10.5
2 multiple endocrine neoplasia, type iib 10.5
3 neurofibroma 10.5

Symptoms & Phenotypes for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Drugs & Therapeutics for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Search Clinical Trials , NIH Clinical Center for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome

Genetic Tests for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Anatomical Context for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Publications for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Articles related to Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome:

# Title Authors PMID Year
1
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. 61
22258529 2012

Variations for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Expression for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Search GEO for disease gene expression data for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome.

Pathways for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

GO Terms for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

Sources for Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus...

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
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