MCID: CHN064
MIFTS: 21

Chondrodysplasia-Pseudohermaphroditism Syndrome

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards integrated aliases for Chondrodysplasia-Pseudohermaphroditism Syndrome:

Name: Chondrodysplasia-Pseudohermaphroditism Syndrome 58 12
Chondrodysplasia-Disorder of Sex Development Syndrome 12 60
Nivelon-Nivelon-Mabille Syndrome 12 60
Nivelon Nivelon Mabille Syndrome 45 74

Characteristics:

Orphanet epidemiological data:

60
chondrodysplasia-disorder of sex development syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
chondrodysplasia-pseudohermaphroditism syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia-Pseudohermaphroditism Syndrome

Disease Ontology : 12 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.

MalaCards based summary : Chondrodysplasia-Pseudohermaphroditism Syndrome, is also known as chondrodysplasia-disorder of sex development syndrome. An important gene associated with Chondrodysplasia-Pseudohermaphroditism Syndrome is HHAT (Hedgehog Acyltransferase). Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia

Description from OMIM: 600092

Related Diseases for Chondrodysplasia-Pseudohermaphroditism Syndrome

Symptoms & Phenotypes for Chondrodysplasia-Pseudohermaphroditism Syndrome

Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
8 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
9 abnormality of pelvic girdle bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002644
10 broad long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005622
11 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
12 abnormality of the shoulder 60 33 hallmark (90%) Very frequent (99-80%) HP:0003043
13 increased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004330
14 short phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009803
15 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
16 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
17 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
18 hypoplasia of the iris 60 33 frequent (33%) Frequent (79-30%) HP:0007676
19 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
20 male pseudohermaphroditism 60 33 frequent (33%) Frequent (79-30%) HP:0000037
21 miosis 60 33 frequent (33%) Frequent (79-30%) HP:0000616
22 brain very small 60 33 frequent (33%) Frequent (79-30%) HP:0001322
23 abnormality of the clavicle 33 HP:0000889
24 cerebellar vermis hypoplasia 33 HP:0001320
25 bell-shaped thorax 33 HP:0001591
26 coloboma 33 HP:0000589
27 trapezoidal shaped vertebral bodies 33 HP:0005621

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Eyes:
iris hypoplasia
optic disc coloboma

Growth Height:
dwarfism, severe antenatal

Genitourinary External Genitalia Female:
normal female genitalia

Skeletal:
chondrodysplasia

Laboratory Abnormalities:
46,xy karyotype (1 of 2 patients)

Skeletal Limbs:
micromelia

Skeletal Hands:
short metacarpals
short phalanges

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
abnormal clavicles

Genitourinary Internal Genitalia Female:
normal female genitalia

Skeletal Spine:
trapezoid-shaped vertebral bodies

Clinical features from OMIM:

600092

Drugs & Therapeutics for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia-Pseudohermaphroditism Syndrome

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

Genetic Tests for Chondrodysplasia-Pseudohermaphroditism Syndrome

Anatomical Context for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards organs/tissues related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

42
Bone, Eye, Brain

Publications for Chondrodysplasia-Pseudohermaphroditism Syndrome

Variations for Chondrodysplasia-Pseudohermaphroditism Syndrome

Expression for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search GEO for disease gene expression data for Chondrodysplasia-Pseudohermaphroditism Syndrome.

Pathways for Chondrodysplasia-Pseudohermaphroditism Syndrome

GO Terms for Chondrodysplasia-Pseudohermaphroditism Syndrome

Sources for Chondrodysplasia-Pseudohermaphroditism Syndrome

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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