Rhizomelic Chondrodysplasia Punctata disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁰Disease Ontology, ²³Genetics Home Reference, ¹²DISEASES, ⁵¹Orphanet, ³⁶MeSH, ⁶⁵UMLS, ⁴⁷Novoseek, ²⁴GTR, ²⁷ICD10, ⁴²NCIt, ⁵⁹SNOMED-CT, ²⁸ICD10 via Orphanet, ³⁷MESH via Orphanet, ⁶⁶UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata ¹⁰ ²³ ¹² ⁵¹

Chondrodysplasia Punctata, Rhizomelic ²³ ³⁶ ⁶⁵

Chondrodysplasia Punctata Rhizomelic ⁴⁷ ²⁴

Rcdp ²³ ⁵¹

Rcp ²³

Characteristics:

Orphanet epidemiological data:

⁵¹

rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:

MalaCards categories:
Global: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸ ²⁷

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Chondrodysplasia punctata

Orphanet: ⁵¹

Rare neurological diseases

Rare eye diseases

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology¹⁰ DOID:2580

ICD10²⁷ E71.540

MeSH³⁶ D018902

NCIt⁴² C85047

SNOMED-CT⁵⁹ 56692003

Orphanet⁵¹ 177

ICD10 via Orphanet²⁸ Q77.3

MESH via Orphanet³⁷ D018902

UMLS via Orphanet⁶⁶ C0282529

UMLS⁶⁵ C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁰Disease Ontology, ²³Genetics Home Reference, ⁶⁸Wikipedia, ³³MalaCards
See all MalaCards sources

Disease Ontology:¹⁰ A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has material basis in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.

MalaCards based summary: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to peroxisome disorders and peroxisome biogenesis disorder 9b, and has symptoms including abnormality of the teeth, microcephaly and epicanthus. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways are triacylglycerol biosynthesis and Peroxisomal lipid metabolism. Affiliated tissues include bone, brain and skin, and related mouse phenotypes are liver/biliary system and reproductive system.

Genetics Home Reference:²³ Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

Wikipedia:⁶⁸ Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Related Diseases for Rhizomelic Chondrodysplasia Punctata

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

Diseases in the Rhizomelic Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, Rhizomelic, Type 2	Chondrodysplasia Punctata, Rhizomelic, Type 3
Chondrodysplasia Punctata, Rhizomelic, Type 1	Rhizomelic Chondrodysplasia Punctata Spectrum

Diseases related to Rhizomelic Chondrodysplasia Punctata via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)

id	Related Disease	Score	Top Affiliating Genes
1	peroxisome disorders	30.4	PEX5, PEX7
2	peroxisome biogenesis disorder 9b	29.5	HADHB, PEX5, PEX7
3	chondrodysplasia punctata	27.5	AGPS, GNPAT, HADHB, MVK, PEX26, PEX5
4	rhizomelic chondrodysplasia punctata spectrum	12.2
5	chondrodysplasia punctata, rhizomelic, type 1	12.1
6	chondrodysplasia punctata, rhizomelic, type 3	12.1
7	chondrodysplasia punctata, rhizomelic, type 2	12.0
8	robin sequence with cleft mandible and limb anomalies	11.0
9	zellweger syndrome	10.5
10	peroxisome biogenesis disorder 1a	10.4
11	refsum disease	10.3
12	cervicitis	10.3
13	peroxisome biogenesis disorder 6a	10.2
14	peroxisome biogenesis disorder 13a	10.2
15	peroxisome biogenesis disorder 12a	10.2
16	peroxisome biogenesis disorder 11a	10.2
17	peroxisome biogenesis disorder 4a	10.2
18	peroxisome biogenesis disorder 10a	10.2
19	peroxisome biogenesis disorder 5a	10.2
20	peroxisomal fatty acyl-coa reductase 1 disorder	10.2
21	peroxisome biogenesis disorder 8a,	10.2
22	peroxisome biogenesis disorder 2a	10.2
23	peroxisome biogenesis disorder 3a	10.2
24	peroxisome biogenesis disorder 7a	10.2
25	adrenoleukodystrophy	10.2
26	cataract	10.2
27	hepatitis	10.2
28	neonatal respiratory failure	10.2
29	respiratory failure	10.2
30	neuronitis	10.2
31	peroxisomal biogenesis disorders	10.2
32	breast cancer	10.0
33	phosphorylase kinase deficiency	9.5	PEX26, PEX5
34	growth hormone deficiency, isolated, type ia	9.4	PEX5, PEX7
35	zerres rietschel majewski syndrome	9.4	PEX26, PEX5, PEX7
36	neonatal herpes	9.3	PEX26, PEX5, PEX7
37	mental retardation, x-linked, fraxe type	9.0	HADHB, PEX26, PEX5
38	pityriasis versicolor	8.8	GNPAT, HADHB, MVK, PEX5
39	heimler syndrome 1	8.6	GNPAT, PEX26, PEX5, PEX7, PHYH
40	agammaglobulinemia	8.2	AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH
41	persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly	8.1	AGPS, GNPAT, HADHB, PEX5, PEX7, PHYH
42	immunodeficiency 41 with lymphoproliferation and autoimmunity	8.0	GNPAT, HADHB, PEX26, PEX5, PEX7, PHYH

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata:

Symptoms for Rhizomelic Chondrodysplasia Punctata

Sources:
⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
See all MalaCards sources

Symptoms:

⁵¹ (show all 20)

microcephaly
cataract/lens opacification
epicanthic folds
abnormal dentition/dental position/implantation/unerupted/dental ankylosis
scoliosis
rhizomelic micromelia
dry/squaly skin/exfoliation
ichthyosis/ichthyosiform dermatitis
decreased body hair/axillar/pubic hairlessness
metaphyseal anomaly

epiphyseal anomaly
punctate epiphyses/epiphysis
autosomal recessive inheritance
short stature/dwarfism/nanism
failure to thrive/difficulties for feeding in infancy/growth delay
flat face
spina bifida occulta
restricted joint mobility/joint stiffness/ankylosis
hypotrichosis/atrichia/atrichiasis/scalp hairlessness
intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

(show all 17)

id	Description	Frequency	HPO Source Accession
1	abnormality of the teeth	hallmark (90%)	HP:0000164
2	microcephaly	hallmark (90%)	HP:0000252
3	epicanthus	hallmark (90%)	HP:0000286
4	cataract	hallmark (90%)	HP:0000518
5	abnormality of the metaphyses	hallmark (90%)	HP:0000944
6	dry skin	hallmark (90%)	HP:0000958
7	scoliosis	hallmark (90%)	HP:0002650
8	short stature	hallmark (90%)	HP:0004322
9	ichthyosis	hallmark (90%)	HP:0008064
10	limb undergrowth	hallmark (90%)	HP:0009826
11	epiphyseal stippling	hallmark (90%)	HP:0010655
12	abnormal hair quantity	hallmark (90%)	HP:0011362
13	malar flattening	typical (50%)	HP:0000272
14	limitation of joint mobility	typical (50%)	HP:0001376
15	spina bifida occulta	typical (50%)	HP:0003298
16	abnormal hair quantity	occasional (7.5%)	HP:0011362
17	cognitive impairment	occasional (7.5%)	HP:0100543

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶Cochrane Library, ⁶⁵UMLS, ⁴³NDF-RT
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)	Recruiting	NCT01668186

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

Sources:
³³MalaCards
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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

³³

Bone, Brain, Skin, Lung, Eye, Breast, Endothelial

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

Sources:
³⁸MGI
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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	8.7	HADHB, PEX5, PEX7, PHYH
2	reproductive system	MP:0005389	8.3	AGPS, GNPAT, PEX5, PEX7, PHYH
3	homeostasis/metabolism	MP:0005376	6.9	AGPS, GNPAT, HADHB, PEX26, PEX5, PEX7

Publications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 81)

id	Title	Authors	Year
1	Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)	A8im A.... Braverman N.E.	2015
2	A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)	BarA... Frengen E.	2015
3	Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. (25432520)	Malheiro A.R.... Brites P.	2015
4	Congenital heart defects common in rhizomelic chondrodysplasia punctata. (26408048)	Duker A.L.... Bober M.B.	2015
5	Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)	Noguchi M.... Fujiki Y.	2014
6	An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)	Chatterjee S.... Sinha M.K.	2013
7	Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)	Roy A.... Chakraborty S.	2013
8	Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)	Huffnagel I.C.... Poll-The B.T.	2013
9	The neurology of rhizomelic chondrodysplasia punctata. (24172221)	Bams-Mengerink A.M.... Poll-The B.T.	2013
10	Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)	Chhavi N.... Karthikeyan K.	2012
11	Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)	Oswald G.... Braverman N.	2011
12	Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)	Tinnion R.J.... Harigopal S.	2011
13	Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)	Zwijnenburg P.J.... Tan-Sindhunata M.B.	2010
14	Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)	Phadke S.R.... Braverman N.	2010
15	Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)	Goh S.	2007
16	Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)	BaA9buA9 M.... Tayyar M.	2005
17	Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)	Sigirci A.... GA1lcan H.	2005
18	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003
19	Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)	Alkan A.... Sarac K.	2003
20	MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)	Viola A.... Cozzone P.J.	2002
21	Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)	Khanna A.J.... Sponseller P.D.	2001
22	Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)	Sztriha L.... Lestringant G.G.	2000
23	Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)	Powers J.M.... Moser H.W.	1999
24	Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)	Brookhyser K.M.... Rimoin D.L.	1999
25	Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)	Purdue P.E.... Lazarow P.B.	1999
26	Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)	Ofman R.... Wanders R.J.A.	1998
27	Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)	Wanders R.J.... Romeijn G.J.	1998
28	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997
29	Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)	Mota C.R.... Lima M.R.	1997
30	Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)	Jansen G.A.... Wanders R.J.	1997
31	Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)	Barth P.G.... Staalman C.R.	1996
32	Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)	Hebestreit H.... Marx A.	1996
33	Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)	Sastrowijoto S.H.... Fryns J.P.	1994
34	Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)	Gendall P.W.... Becroft D.M.	1994
35	Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)	Schutgens R.B.... Frumau M.E.	1993
36	Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)	Barr D.G.... Schutgens R.B.	1993
37	Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)	Rizzo W.B.... Moser A.B.	1993
38	Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)	Suzuki Y.... Orii T.	1993
39	Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)	Hughes J.L.... Sillence D.	1992
40	Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)	Wells T.R.... Bostwick F.H.	1992
41	Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)	Gray R.G.... Wanders R.J.	1992
42	Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)	De Craemer D.... Roels F.	1991
43	Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)	Heikoop J.C.... Tager J.M.	1991
44	Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)	Wardinsky T.D.... Moser A.	1990
45	Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)	Gray R.G.... Kennedy C.R.	1990
46	Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)	Hoefler S.... Moser H.W.	1988
47	Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)	Poulos A.... Usher S.	1988
48	More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)	Goldfischer S.L.	1986
49	Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)	Heymans H.S.... Schutgens R.B.	1985
50	(19542396)

Genes related to Rhizomelic Chondrodysplasia Punctata

Sources:
²⁰GeneCards, ⁵Clinvar, ¹²DISEASES, ⁴⁷Novoseek
See all MalaCards sources

Genes related to Rhizomelic Chondrodysplasia Punctata (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PEX5	Peroxisomal Biogenesis Factor 5	427.89	Pathogenic ⁵ DISEASES inferred ¹² GeneCards inferred via : Publications (show sections)
2	PEX7	Peroxisomal Biogenesis Factor 7	74.58	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	10083738, 12325024, 20145307 more 9090381, 10673331, 12522768, 9090383
3	GNPAT	Glyceronephosphate O-Acyltransferase	72.90	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	8466247, 7530787, 7914249
4	AGPS	Alkylglycerone Phosphate Synthase	70.81	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	10683770
5	PHYH	Phytanoyl-CoA 2-Hydroxylase	45.70	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications, Summaries (show sections)	9266377
6	HADHB	Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit	35.79	DISEASES inferred ¹² Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	8059925
7	PEX26	Peroxisomal Biogenesis Factor 26	29.62	GeneCards inferred via : Disorders, Summaries (show sections)
8	MVK	Mevalonate Kinase	26.49	Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	9647750, 9686383

Variations for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵Clinvar
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Clinvar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX5	NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs)	duplication	Pathogenic	rs796051881	GRCh38	Chr 12, 7202275: 7202275

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁷Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata.

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
⁵²PathCards, ³⁹NCBI BioSystems Database, ³¹KEGG, ⁵⁷Reactome
See all MalaCards sources

Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	triacylglycerol biosynthesis³⁹ Show member pathways CDP-diacylglycerol biosynthesis³⁹ Glycerolipid metabolism³¹ Triacylglyceride Synthesis³⁹ Plasmalogen biosynthesis⁵⁷	9.6	AGPS, GNPAT
2	Peroxisomal lipid metabolism⁵⁷ Show member pathways Alpha-oxidation of phytanate⁵⁷ fatty acid alpha-oxidation³⁹ Beta-oxidation of very long chain fatty acids⁵⁷ Beta-oxidation of pristanoyl-CoA⁵⁷	9.1	AGPS, GNPAT, PHYH
3	Peroxisome³¹	7.0	AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁸Gene Ontology
See all MalaCards sources

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	glycerophospholipid biosynthetic process	GO:0046474	9.7	GNPAT, HADHB
2	neuron migration	GO:0001764	9.7	PEX5, PEX7
3	cellular lipid metabolic process	GO:0044255	9.6	AGPS, GNPAT