MCID: CRV046
MIFTS: 16

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 56 52
Cervical Ribs, Sprengel Anomaly, Preaxial Polydactyly, Anal Atresia, and Urethral Obstruction 52
Frydman Cohen Ashkenazi Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction:
Inheritance autosomal recessive inheritance


Classifications:



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:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 sprengel deformity 10.7
2 cryptorchidism, unilateral or bilateral 10.7
3 polydactyly 10.7
4 omphalocele 10.7
5 microcephaly 10.7
6 patent urachus 10.7

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:

31 (showing 13, show less)
# Description HPO Frequency HPO Source Accession
1 sprengel anomaly 31 HP:0000912
2 talipes equinovarus 31 HP:0001762
3 anal atresia 31 HP:0002023
4 renal hypoplasia 31 HP:0000089
5 preaxial hand polydactyly 31 HP:0001177
6 omphalocele 31 HP:0001539
7 cervical ribs 31 HP:0000891
8 renal dysplasia 31 HP:0000110
9 urethral obstruction 31 HP:0000796
10 autoimmune thrombocytopenia 31 HP:0001973
11 thoracolumbar scoliosis 31 HP:0002944
12 hypertrophy of the urinary bladder 31 HP:0008635
13 prune belly 31 HP:0004392

Symptoms via clinical synopsis from OMIM:

56
Thorax:
sprengel anomaly
cervical ribs

Abdomen:
omphalocele
prune belly

Limbs:
preaxial polydactyly
clubfoot

Heme:
chronic immune thrombocytopenia (cit)

G I:
anal atresia

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

Spine:
thoracolumbar scoliosis

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:

40
Kidney

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

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

(showing 2, show less)
# Title Authors PMID Year
1
Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome? 56
8456850 1993
2
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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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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