MCID: ACR072
MIFTS: 34

Acrorenal Syndrome

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal Syndrome

MalaCards integrated aliases for Acrorenal Syndrome:

Name: Acrorenal Syndrome 57 12 58 44 15 70

Characteristics:

Orphanet epidemiological data:

58
acrorenal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
? autosomal dominant


HPO:

31
acrorenal syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060347
OMIM® 57 102520
MeSH 44 C563159
SNOMED-CT 67 720458005
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 71 C0796290 C3495490
Orphanet 58 ORPHA971
MedGen 41 C3495490
UMLS 70 C3495490

Summaries for Acrorenal Syndrome

Disease Ontology : 12 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.

MalaCards based summary : Acrorenal Syndrome is related to renal hypoplasia and acrorenal syndrome, autosomal recessive. An important gene associated with Acrorenal Syndrome is ZIC3 (Zic Family Member 3). Affiliated tissues include uterus, trachea and eye, and related phenotypes are renal hypoplasia/aplasia and split hand

More information from OMIM: 102520

Related Diseases for Acrorenal Syndrome

Graphical network of the top 20 diseases related to Acrorenal Syndrome:



Diseases related to Acrorenal Syndrome

Symptoms & Phenotypes for Acrorenal Syndrome

Human phenotypes related to Acrorenal Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
2 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
3 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
4 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
5 abnormality of tibia morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002992
6 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
7 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
8 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
9 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
10 abnormal renal morphology 58 31 Very frequent (99-80%) HP:0012210
11 abnormality of the eye 58 Occasional (29-5%)
12 hand oligodactyly 31 HP:0001180

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
renal malformation

Misc:
male, sporadic developmental field defect

Limbs:
absent digits

Clinical features from OMIM®:

102520 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acrorenal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.77 FMN1 FREM2 GLI3 HOXD13 ZIC3
2 embryo MP:0005380 9.73 FREM2 GLI3 HOXD13 ZIC3
3 integument MP:0010771 9.71 FMN1 FREM2 GLI3 HOXD13
4 renal/urinary system MP:0005367 9.56 FMN1 FREM2 GLI3 HOXD13
5 reproductive system MP:0005389 9.55 FMN1 FREM2 GLI3 HOXD13 ZIC3
6 pigmentation MP:0001186 9.5 FMN1 FREM2 GLI3
7 skeleton MP:0005390 9.35 FMN1 FREM2 GLI3 HOXD13 ZIC3
8 vision/eye MP:0005391 8.92 FREM2 GLI3 HOXD13 ZIC3

Drugs & Therapeutics for Acrorenal Syndrome

Search Clinical Trials , NIH Clinical Center for Acrorenal Syndrome

Cochrane evidence based reviews: acrorenal syndrome

Genetic Tests for Acrorenal Syndrome

Anatomical Context for Acrorenal Syndrome

MalaCards organs/tissues related to Acrorenal Syndrome:

40
Uterus, Trachea, Eye, Kidney, Bone, Pancreas

Publications for Acrorenal Syndrome

Articles related to Acrorenal Syndrome:

(show all 16)
# Title Authors PMID Year
1
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"? 57 61
15316969 2004
2
New variant of acro-renal field defect. 57
12784306 2003
3
Associated acral and renal malformations: a new syndrome? 57
4402497 1972
4
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons. 61
33680639 2021
5
Solitary Pelvic Ectopic Kidney and Limb Anomalies: Rare Variant of Acrorenal Syndrome. 61
33013074 2020
6
A Case of Acrorenal Syndrome. 61
30087221 2018
7
Acral and renal malformations following ICSI. 61
16574593 2006
8
No 'Stinkefinger' and renal failure--do you see a link? Diagnosis: acrorenal syndrome. 61
10534529 1999
9
Acrorenal syndrome associated with visual defect. 61
8971900 1996
10
Re: "Acrorenal syndrome in a child with renal failure" [Akl, 1994]. 61
7864054 1994
11
Acrorenal syndrome in a child with renal failure. 61
8179725 1994
12
Autosomal recessive acrorenal syndrome. 61
1344975 1992
13
Acrorenal syndrome: further observations. 61
1342854 1992
14
Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions. 61
2773925 1989
15
Rokitansky-Küster-Hauser syndrome with ectrodactyly. 61
3239389 1988
16
A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia. 61
6714259 1984

Variations for Acrorenal Syndrome

Expression for Acrorenal Syndrome

Search GEO for disease gene expression data for Acrorenal Syndrome.

Pathways for Acrorenal Syndrome

GO Terms for Acrorenal Syndrome

Biological processes related to Acrorenal Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.49 ZIC3 GLI3
2 kidney development GO:0001822 9.48 GLI3 FREM2
3 lung development GO:0030324 9.46 ZIC3 GLI3
4 inner ear development GO:0048839 9.43 GLI3 FREM2
5 embryonic limb morphogenesis GO:0030326 9.4 HOXD13 GLI3
6 limb development GO:0060173 9.37 GLI3 FMN1
7 anterior/posterior pattern specification GO:0009952 9.33 ZIC3 HOXD13 GLI3
8 limb morphogenesis GO:0035108 9.32 HOXD13 GLI3
9 prostate gland development GO:0030850 9.26 HOXD13 GLI3
10 pattern specification process GO:0007389 9.13 ZIC3 HOXD13 GLI3
11 embryonic digit morphogenesis GO:0042733 8.8 HOXD13 GLI3 FREM2

Molecular functions related to Acrorenal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.13 ZIC3 HOXD13 GLI3
2 sequence-specific double-stranded DNA binding GO:1990837 8.8 ZIC3 HOXD13 GLI3

Sources for Acrorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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