MCID: ACR115
MIFTS: 12

Acrorenal Syndrome, Autosomal Recessive

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal Syndrome, Autosomal Recessive

MalaCards integrated aliases for Acrorenal Syndrome, Autosomal Recessive:

Name: Acrorenal Syndrome, Autosomal Recessive 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acrorenal syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 201310
MedGen 43 C0796290

Summaries for Acrorenal Syndrome, Autosomal Recessive

MalaCards based summary : Acrorenal Syndrome, Autosomal Recessive is related to acrorenal syndrome recessive. Related phenotypes are clinodactyly and renal insufficiency

Description from OMIM: 201310

Related Diseases for Acrorenal Syndrome, Autosomal Recessive

Diseases in the Acrorenal Syndrome family:

Acrorenal Syndrome, Autosomal Recessive Acrorenal Syndrome Recessive

Diseases related to Acrorenal Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrorenal syndrome recessive 11.4

Symptoms & Phenotypes for Acrorenal Syndrome, Autosomal Recessive

Human phenotypes related to Acrorenal Syndrome, Autosomal Recessive:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 HP:0030084
2 renal insufficiency 33 HP:0000083
3 renal hypoplasia 33 HP:0000089
4 split hand 33 HP:0001171
5 radial deviation of finger 33 HP:0009466
6 split foot 33 HP:0001839
7 decreased numbers of nephrons 33 HP:0005563

Symptoms via clinical synopsis from OMIM:

58
Limbs:
clinodactyly
tetraectrodactyly
lobster claw deformity

G U:
renal insufficiency
oligomeganephronic renal hypoplasia

Clinical features from OMIM:

201310

Drugs & Therapeutics for Acrorenal Syndrome, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Acrorenal Syndrome, Autosomal Recessive

Genetic Tests for Acrorenal Syndrome, Autosomal Recessive

Anatomical Context for Acrorenal Syndrome, Autosomal Recessive

Publications for Acrorenal Syndrome, Autosomal Recessive

Variations for Acrorenal Syndrome, Autosomal Recessive

Expression for Acrorenal Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Acrorenal Syndrome, Autosomal Recessive.

Pathways for Acrorenal Syndrome, Autosomal Recessive

GO Terms for Acrorenal Syndrome, Autosomal Recessive

Sources for Acrorenal Syndrome, Autosomal Recessive

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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