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 57 75 53 59 72
Von Voss-Cherstvoy Syndrome 57 59
Phocomelia-Thrombocytopenia-Encephalocele-Urogenital Malformations Syndrome 59
Phocomelia Thrombocytopenia Encephalocele and Urogenital Malformations 53
Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations 57
Von Voss Cherstvoy Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
von voss-cherstvoy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dk phocomelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 223340
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1857226
Orphanet 59 ORPHA3439
MedGen 42 C1857226
UMLS 72 C1857226

Summaries for Dk Phocomelia Syndrome

NIH Rare Diseases : 53 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 tetralogy of fallot and transient neonatal thrombocytopenia. Affiliated tissues include brain and thymus, and related phenotypes are thrombocytopenia and encephalocele

Wikipedia : 75 Phocomelia is a condition that involves malformations of the arms and legs. Although many factors can... more...

More information 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 10.5
2 transient neonatal thrombocytopenia 10.5
3 meningoencephalocele 10.5
4 phocomelia 10.5
5 encephalocele 10.4
6 amelia 10.4
7 cryptorchidism, unilateral or bilateral 10.2
8 roberts syndrome 10.2
9 choanal atresia, posterior 10.2
10 scoliosis 10.2
11 thrombocytopenia 10.2
12 occipital 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:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 encephalocele 32 HP:0002084
3 phocomelia 32 HP:0009829
4 abnormality of the genitourinary system 32 HP:0000119

Symptoms via clinical synopsis from OMIM:

57
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:

41
Brain, Thymus

Publications for Dk Phocomelia Syndrome

Articles related to Dk Phocomelia Syndrome:

(show all 16)
# Title Authors PMID Year
1
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. 38 8
15054846 2004
2
DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). 38 8
9415466 1997
3
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 8
22002800 2011
4
Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline. 8
7802033 1994
5
Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities. 8
6106133 1980
6
A newborn with very rare von Voss-Cherstvoy syndrome: a case report. 38
27499650 2016
7
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. 38
25899150 2015
8
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. 38
21358540 2011
9
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII). 38
18935989 2008
10
Von Voss-Cherstvoy syndrome. 38
12428045 2002
11
VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. 38
9128933 1997
12
[Von-Voss-Cherstvoy syndrome (DK-Focomelia): description of the first case in Spain and a literature review]. 38
9173857 1997
13
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene? 38
8566956 1996
14
von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. 38
7810558 1994
15
DK-phocomelia syndrome in a child with a long follow-up. 38
7810557 1994
16
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? 38
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
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
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