MCID: DKP001
MIFTS: 23

Dk Phocomelia Syndrome

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dk Phocomelia Syndrome

MalaCards integrated aliases for Dk Phocomelia Syndrome:

Name: Dk Phocomelia Syndrome 58 77 54 60 74
Von Voss-Cherstvoy Syndrome 58 60
Phocomelia-Thrombocytopenia-Encephalocele-Urogenital Malformations Syndrome 60
Phocomelia Thrombocytopenia Encephalocele and Urogenital Malformations 54
Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations 58
Von Voss Cherstvoy Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
von voss-cherstvoy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dk phocomelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 223340
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1857226
Orphanet 60 ORPHA3439
MedGen 43 C1857226
UMLS 74 C1857226

Summaries for Dk Phocomelia Syndrome

NIH Rare Diseases : 54 DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.

MalaCards based summary : Dk Phocomelia Syndrome, also known as von voss-cherstvoy syndrome, is related to phocomelia and xp22.3 microdeletion syndrome. Affiliated tissues include brain and bone, and related phenotypes are thrombocytopenia and encephalocele

Wikipedia : 77 Phocomelia is a condition that involves malformations of the arms and legs. Although many factors can... more...

Description from OMIM: 223340

Related Diseases for Dk Phocomelia Syndrome

Diseases in the Phocomelia family:

Dk Phocomelia Syndrome Sc Phocomelia Syndrome

Diseases related to Dk Phocomelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phocomelia 10.5
2 xp22.3 microdeletion syndrome 10.5
3 roberts syndrome 10.2
4 choanal atresia, posterior 10.2
5 thrombocytopenia 10.2
6 encephalocele 10.2

Graphical network of the top 20 diseases related to Dk Phocomelia Syndrome:



Diseases related to Dk Phocomelia Syndrome

Symptoms & Phenotypes for Dk Phocomelia Syndrome

Human phenotypes related to Dk Phocomelia Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 encephalocele 33 HP:0002084
3 phocomelia 33 HP:0009829
4 abnormality of the genitourinary system 33 HP:0000119

Symptoms via clinical synopsis from OMIM:

58
Heme:
thrombocytopenia

Limbs:
phocomelia

Neuro:
encephalocele

G U:
urogenital abnormalities

Clinical features from OMIM:

223340

Drugs & Therapeutics for Dk Phocomelia Syndrome

Search Clinical Trials , NIH Clinical Center for Dk Phocomelia Syndrome

Genetic Tests for Dk Phocomelia Syndrome

Anatomical Context for Dk Phocomelia Syndrome

MalaCards organs/tissues related to Dk Phocomelia Syndrome:

42
Brain, Bone

Publications for Dk Phocomelia Syndrome

Articles related to Dk Phocomelia Syndrome:

# Title Authors Year
1
A newborn with very rare von Voss-Cherstvoy syndrome: a case report. ( 27499650 )
2016
2
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. ( 25899150 )
2015
3
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. ( 21358540 )
2011
4
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. ( 15054846 )
2004
5
Von Voss-Cherstvoy syndrome. ( 12428045 )
2002
6
DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). ( 9415466 )
1997
7
von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. ( 7810558 )
1994
8
DK-phocomelia syndrome in a child with a long follow-up. ( 7810557 )
1994
9
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? ( 1605264 )
1992

Variations for Dk Phocomelia Syndrome

Expression for Dk Phocomelia Syndrome

Search GEO for disease gene expression data for Dk Phocomelia Syndrome.

Pathways for Dk Phocomelia Syndrome

GO Terms for Dk Phocomelia Syndrome

Sources for Dk Phocomelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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