ACPS4
MCID: ACR108
MIFTS: 19

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 58 74
Goodman Syndrome 58 60
Acrocephalopolysyndactyly Type 4 60
Acps Iv 58
Acps4 60

Characteristics:

Orphanet epidemiological data:

60
goodman syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acrocephalopolysyndactyly type iv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 201020
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C0265303
Orphanet 60 ORPHA65798
MedGen 43 C0265303
UMLS 74 C0265303

Summaries for Acrocephalopolysyndactyly Type Iv

MalaCards based summary : Acrocephalopolysyndactyly Type Iv, also known as goodman syndrome, is related to rozin hertz goodman syndrome and theodor hertz goodman syndrome. Affiliated tissues include bone, and related phenotypes are clinodactyly and hand polydactyly

Description 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 rozin hertz goodman syndrome 12.1
2 theodor hertz goodman syndrome 12.1
3 fanconi anemia, complementation group e 11.8
4 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.3
5 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.2
6 ichthyosis--cheek--eyebrow syndrome 11.0
7 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.0
8 carpenter syndrome 1 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 HP:0030084
2 hand polydactyly 33 HP:0001161
3 radial deviation of finger 33 HP:0009466
4 camptodactyly 33 HP:0012385
5 syndactyly 33 HP:0001159
6 joint contracture of the hand 33 HP:0009473
7 oxycephaly 33 HP:0000263
8 ulnar deviation of the hand or of fingers of the hand 33 HP:0001193

Symptoms via clinical synopsis from OMIM:

58
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:

42
Bone

Publications for Acrocephalopolysyndactyly Type Iv

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
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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