MCID: CRV046
MIFTS: 14

Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction

Categories: Rare diseases

Aliases & Classifications for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

MalaCards integrated aliases for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction:

Name: Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 57 53
Cervical Ribs, Sprengel Anomaly, Preaxial Polydactyly, Anal Atresia, and Urethral Obstruction 53
Frydman Cohen Ashkenazi Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601389
MedGen 42 C1832391

Summaries for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

MalaCards based summary : Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction, also known as cervical ribs, sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction, is related to sprengel deformity and cryptorchidism, unilateral or bilateral. Affiliated tissues include kidney, and related phenotypes are sprengel anomaly and talipes equinovarus

More information from OMIM: 601389

Related Diseases for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Diseases related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sprengel deformity 10.6
2 cryptorchidism, unilateral or bilateral 10.6
3 pseudovaginal perineoscrotal hypospadias 10.6
4 polydactyly 10.6
5 omphalocele 10.6
6 microcephaly 10.6
7 patent urachus 10.6

Graphical network of the top 20 diseases related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction:



Diseases related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction

Symptoms & Phenotypes for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Human phenotypes related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 sprengel anomaly 32 HP:0000912
2 talipes equinovarus 32 HP:0001762
3 anal atresia 32 HP:0002023
4 renal hypoplasia 32 HP:0000089
5 preaxial hand polydactyly 32 HP:0001177
6 omphalocele 32 HP:0001539
7 cervical ribs 32 HP:0000891
8 autoimmune thrombocytopenia 32 HP:0001973
9 renal dysplasia 32 HP:0000110
10 thoracolumbar scoliosis 32 HP:0002944
11 urethral obstruction 32 HP:0000796
12 hypertrophy of the urinary bladder 32 HP:0008635
13 prune belly 32 HP:0004392

Symptoms via clinical synopsis from OMIM:

57
Thorax:
sprengel anomaly
cervical ribs

Abdomen:
omphalocele
prune belly

Spine:
thoracolumbar scoliosis

Heme:
chronic immune thrombocytopenia (cit)

G I:
anal atresia

Limbs:
preaxial polydactyly
clubfoot

G U:
urethral obstruction
hypoplastic kidneys
dysplastic kidneys
hypertrophic urinary bladder
dilated ureters

Clinical features from OMIM:

601389

Drugs & Therapeutics for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Search Clinical Trials , NIH Clinical Center for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction

Genetic Tests for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Anatomical Context for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

MalaCards organs/tissues related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction:

41
Kidney

Publications for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Articles related to Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction:

# Title Authors PMID Year
1
Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome? 8
8456850 1993
2
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
17638618 2007

Variations for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Expression for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Search GEO for disease gene expression data for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction.

Pathways for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

GO Terms for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

Sources for Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral...

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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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