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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acrorenal syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201310
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
clinodactyly
tetraectrodactyly
lobster claw deformity

G U:
renal insufficiency
oligomeganephronic renal hypoplasia


Clinical features from OMIM:

201310

Human phenotypes related to Acrorenal Syndrome, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 renal insufficiency 32 HP:0000083
3 renal hypoplasia 32 HP:0000089
4 split hand 32 HP:0001171
5 radial deviation of finger 32 HP:0009466
6 split foot 32 HP:0001839
7 decreased numbers of nephrons 32 HP:0005563

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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