MCID: HYP497
MIFTS: 15

Hyperphalangy

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hyperphalangy

MalaCards integrated aliases for Hyperphalangy:

Name: Hyperphalangy 58
Supernumerary Phalanges 58
Supernumerary Phalanx 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q74.8
Orphanet 58 ORPHA295002

Summaries for Hyperphalangy

MalaCards based summary : Hyperphalangy, also known as supernumerary phalanges, is related to catel-manzke syndrome and obsolete: hyperphalangy, unilateral. An important gene associated with Hyperphalangy is TGDS (TDP-Glucose 4,6-Dehydratase). Affiliated tissues include bone and heart.

Related Diseases for Hyperphalangy

Graphical network of the top 20 diseases related to Hyperphalangy:



Diseases related to Hyperphalangy

Symptoms & Phenotypes for Hyperphalangy

Drugs & Therapeutics for Hyperphalangy

Search Clinical Trials , NIH Clinical Center for Hyperphalangy

Genetic Tests for Hyperphalangy

Anatomical Context for Hyperphalangy

MalaCards organs/tissues related to Hyperphalangy:

40
Bone, Heart

Publications for Hyperphalangy

Articles related to Hyperphalangy:

(show all 35)
# Title Authors PMID Year
1
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2019
2
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 61
31769200 2019
3
Review and experimental evaluation of the embryonic development and evolutionary history of flipper development and hyperphalangy in dolphins (Cetacea: Mammalia). 61
29068152 2018
4
Hyperphalangy in a new sinemydid turtle from the Early Cretaceous Jehol Biota. 61
30065899 2018
5
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. 61
26366375 2015
6
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. 61
25835322 2015
7
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. 61
25480037 2014
8
Integrating developmental biology and the fossil record of reptiles. 61
26154335 2014
9
Supernumerary phalanx-like bone formation posterior to C6 spinous process. 61
23453656 2013
10
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. 61
23483675 2013
11
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum. 61
22828468 2012
12
Unraveling the influences of soft-tissue flipper development on skeletal variation using an extinct taxon. 61
22744735 2012
13
Heterochrony in limb evolution: developmental mechanisms and natural selection. 61
19130597 2009
14
Catel-Manzke syndrome: two new patients and a critical review of the literature. 61
18501694 2008
15
Evolution of hyperphalangy and digit reduction in the cetacean manus. 61
17516431 2007
16
Perspectives on hyperphalangy: patterns and processes. 61
15032905 2004
17
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. 61
14735582 2004
18
Proximodistal patterning of the limb: insights from evolutionary morphology. 61
15108812 2004
19
Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): hyperphalangy and delta-shaped bones. 61
14518013 2003
20
Time, pattern, and heterochrony: a study of hyperphalangy in the dolphin embryo flipper. 61
12492144 2002
21
From fins to limbs to fins: limb evolution in fossil marine reptiles. 61
12357467 2002
22
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. 61
11920830 2002
23
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism. 61
10826622 2000
24
Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition? 61
9018415 1997
25
Histological analysis of limb defects induced in developing limb buds of NMRI mouse embryos after oral administration of 3-3-dimethyl-1-phenyltriazene (DMPT) to their mother on day 10 of gestation. 61
8907562 1995
26
Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. 61
7888142 1994
27
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? 61
8484405 1993
28
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). 61
6540680 1984
29
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. 61
7127881 1982
30
Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome. 61
927984 1977
31
[Morphogenesis of the chick embryo foot as studied by Janus green B-induced malformations]. 61
947998 1976
32
[Congenital erythroblastopenia, supernumerary phalanx of the thumb and hip dislocation]. 61
4439537 1974
33
[Bilateral hexadactylism with unilateral hyperphalangy of the thumb]. 61
4642336 1972
34
[Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone]. 61
6011685 1966
35
Residuum of a supernumerary phalanx 30 years after surgery. 61
5906888 1966

Variations for Hyperphalangy

Expression for Hyperphalangy

Search GEO for disease gene expression data for Hyperphalangy.

Pathways for Hyperphalangy

GO Terms for Hyperphalangy

Sources for Hyperphalangy

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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