MCID: HNT009
MIFTS: 14

Hunter-Mcalpine Syndrome

Categories: Bone diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hunter-Mcalpine Syndrome

MalaCards integrated aliases for Hunter-Mcalpine Syndrome:

Name: Hunter-Mcalpine Syndrome 53
Hunter-Mcalpine Craniosynostosis Syndrome 53 72
Craniosynostosis, Mental Deficiency, Almond-Shaped Palpebral Fissures, Downturned Mouth, Mild Acral-Skeletal Anomalies, and Short Stature 53
Hunter-Mcalpine Craniosynostosis 53

Classifications:



External Ids:

UMLS 72 C1832408

Summaries for Hunter-Mcalpine Syndrome

NIH Rare Diseases : 53 Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the condition is Hunter-McAlpine craniosynostosis syndrome. Hunter-McAlpine syndrome is a genetic condition, meaning that it is caused by changes in the genes. Hunter-McAlpine syndrome is typically diagnosed by genetic testing, and treatment options are focused on managing each individual's symptoms.

MalaCards based summary : Hunter-Mcalpine Syndrome, also known as hunter-mcalpine craniosynostosis syndrome, is related to craniosynostosis and hunter-mcalpine craniosynostosis syndrome. Affiliated tissues include testes, bone and heart.

Related Diseases for Hunter-Mcalpine Syndrome

Diseases related to Hunter-Mcalpine Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniosynostosis 10.6
2 hunter-mcalpine craniosynostosis syndrome 10.5
3 ruvalcaba syndrome 10.3
4 polydactyly 10.3
5 left ventricular noncompaction 10.3
6 hypothyroidism 10.3
7 microcephaly 10.3
8 chromosomal triplication 10.3
9 chromosome 5q duplication 10.3

Graphical network of the top 20 diseases related to Hunter-Mcalpine Syndrome:



Diseases related to Hunter-Mcalpine Syndrome

Symptoms & Phenotypes for Hunter-Mcalpine Syndrome

Drugs & Therapeutics for Hunter-Mcalpine Syndrome

Search Clinical Trials , NIH Clinical Center for Hunter-Mcalpine Syndrome

Genetic Tests for Hunter-Mcalpine Syndrome

Anatomical Context for Hunter-Mcalpine Syndrome

MalaCards organs/tissues related to Hunter-Mcalpine Syndrome:

41
Testes, Bone, Heart

Publications for Hunter-Mcalpine Syndrome

Articles related to Hunter-Mcalpine Syndrome:

# Title Authors PMID Year
1
The Hunter-McAlpine syndrome results from duplication 5q35-qter. 38 6
15617549 2005
2
Hunter-McAlpine syndrome: report of a third family. 38 6
8281273 1993
3
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. 38
23342975 2013
4
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome? 38
21567924 2011
5
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism. 38
21063078 2011
6
5q35 duplication and Hunter-McAlpine syndrome: missing the link. 38
20186800 2010
7
Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q. 38
8723067 1996

Variations for Hunter-Mcalpine Syndrome

Expression for Hunter-Mcalpine Syndrome

Search GEO for disease gene expression data for Hunter-Mcalpine Syndrome.

Pathways for Hunter-Mcalpine Syndrome

GO Terms for Hunter-Mcalpine Syndrome

Sources for Hunter-Mcalpine Syndrome

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
Content
Loading form....