ACPS4
MCID: ACR108
MIFTS: 20

Acrocephalopolysyndactyly Type Iv (ACPS4)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrocephalopolysyndactyly Type Iv

MalaCards integrated aliases for Acrocephalopolysyndactyly Type Iv:

Name: Acrocephalopolysyndactyly Type Iv 56 71
Goodman Syndrome 56 58
Acrocephalopolysyndactyly Type 4 58
Acps Iv 56
Acps4 58

Characteristics:

Orphanet epidemiological data:

58
goodman syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
acrocephalopolysyndactyly type iv:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 201020
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C0265303
Orphanet 58 ORPHA65798
MedGen 41 C0265303
UMLS 71 C0265303

Summaries for Acrocephalopolysyndactyly Type Iv

MalaCards based summary : Acrocephalopolysyndactyly Type Iv, also known as goodman syndrome, is related to theodor hertz goodman syndrome and fanconi anemia, complementation group c. Affiliated tissues include eye, bone and skin, and related phenotypes are clinodactyly and hand polydactyly

More information from OMIM: 201020

Related Diseases for Acrocephalopolysyndactyly Type Iv

Diseases in the Acrocephalopolysyndactyly Type Iii family:

Acrocephalopolysyndactyly Type Iv

Diseases related to Acrocephalopolysyndactyly Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 theodor hertz goodman syndrome 12.3
2 fanconi anemia, complementation group c 11.8
3 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.8
4 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.4
5 ichthyosis--cheek--eyebrow syndrome 11.2
6 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.2
7 obsolete: ichthyosis-cheek-eyebrow syndrome 11.2
8 carpenter syndrome 1 10.1
9 craniosynostosis 10.1

Graphical network of the top 20 diseases related to Acrocephalopolysyndactyly Type Iv:



Diseases related to Acrocephalopolysyndactyly Type Iv

Symptoms & Phenotypes for Acrocephalopolysyndactyly Type Iv

Human phenotypes related to Acrocephalopolysyndactyly Type Iv:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 31 HP:0030084
2 hand polydactyly 31 HP:0001161
3 camptodactyly 31 HP:0012385
4 radial deviation of finger 31 HP:0009466
5 syndactyly 31 HP:0001159
6 joint contracture of the hand 31 HP:0009473
7 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
8 oxycephaly 31 HP:0000263

Symptoms via clinical synopsis from OMIM:

56
Limbs:
clinodactyly
camptodactyly
syndactyly
polydactyly
ulnar deviation

Skull:
acrocephaly

Clinical features from OMIM:

201020

Drugs & Therapeutics for Acrocephalopolysyndactyly Type Iv

Search Clinical Trials , NIH Clinical Center for Acrocephalopolysyndactyly Type Iv

Genetic Tests for Acrocephalopolysyndactyly Type Iv

Anatomical Context for Acrocephalopolysyndactyly Type Iv

MalaCards organs/tissues related to Acrocephalopolysyndactyly Type Iv:

40
Eye, Bone, Skin

Publications for Acrocephalopolysyndactyly Type Iv

Articles related to Acrocephalopolysyndactyly Type Iv:

# Title Authors PMID Year
1
Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs. 61 56
421359 1979
2
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. 56
3322002 1987
3
Autosomal recessive acrocephalosyndactyly revisited. 56
7395920 1980

Variations for Acrocephalopolysyndactyly Type Iv

Expression for Acrocephalopolysyndactyly Type Iv

Search GEO for disease gene expression data for Acrocephalopolysyndactyly Type Iv.

Pathways for Acrocephalopolysyndactyly Type Iv

GO Terms for Acrocephalopolysyndactyly Type Iv

Sources for Acrocephalopolysyndactyly Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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