MCID: PYK001
MIFTS: 15

Pyknoachondrogenesis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pyknoachondrogenesis

MalaCards integrated aliases for Pyknoachondrogenesis:

Name: Pyknoachondrogenesis 58 54 60 74
Association of Skeletal Defects Resembling Achondrogenesis with Generalized Bone Sclerosis 54
Camera Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pyknoachondrogenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
pyknoachondrogenesis:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 265880
MESH via Orphanet 46 C536251
ICD10 via Orphanet 35 Q78.8
UMLS via Orphanet 75 C1849523
Orphanet 60 ORPHA3003
MedGen 43 C1849523
UMLS 74 C1849523

Summaries for Pyknoachondrogenesis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3003Disease definitionPyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.EpidemiologyThe disease is very rare and only five cases (four males and one female) have been reported in the literature so far.Clinical descriptionPyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism.EtiologyEtiology remains unknown. Familial occurrence of affected sibs of both sexes points to an autosomal recessive pattern of inheritance but parental consanguinity has not been reported.Diagnostic methodsDiagnosis is based on clinical findings and typical radiographic features. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere.Differential diagnosisAchondrogenesis (see this term) is the main differential diagnosis.Antenatal diagnosisPrenatal diagnosis of pyknoachondrogenesis may be made by ultrasound.PrognosisPyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pyknoachondrogenesis, also known as association of skeletal defects resembling achondrogenesis with generalized bone sclerosis, is related to achondrogenesis. Affiliated tissues include bone, and related phenotype is increased bone mineral density.

Description from OMIM: 265880

Related Diseases for Pyknoachondrogenesis

Diseases related to Pyknoachondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 achondrogenesis 10.1

Symptoms & Phenotypes for Pyknoachondrogenesis

Human phenotypes related to Pyknoachondrogenesis:

33
# Description HPO Frequency HPO Source Accession
1 increased bone mineral density 33 HP:0011001

Symptoms via clinical synopsis from OMIM:

58
Skel:
osteochondrodysplasia
pyknoachondrogenesis
severe bone sclerosis

Misc:
stillborn or neonatal lethal

Radiology:
increased bone density

Clinical features from OMIM:

265880

Drugs & Therapeutics for Pyknoachondrogenesis

Search Clinical Trials , NIH Clinical Center for Pyknoachondrogenesis

Genetic Tests for Pyknoachondrogenesis

Anatomical Context for Pyknoachondrogenesis

MalaCards organs/tissues related to Pyknoachondrogenesis:

42
Bone

Publications for Pyknoachondrogenesis

Articles related to Pyknoachondrogenesis:

# Title Authors Year
1
Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? ( 3791681 )
1986

Variations for Pyknoachondrogenesis

Expression for Pyknoachondrogenesis

Search GEO for disease gene expression data for Pyknoachondrogenesis.

Pathways for Pyknoachondrogenesis

GO Terms for Pyknoachondrogenesis

Sources for Pyknoachondrogenesis

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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