MCID: NNT023
MIFTS: 29

Neonatal Progeroid Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Neonatal Progeroid Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neonatal Progeroid Syndrome:

Name: Neonatal Progeroid Syndrome 45 22 51
Wiedemann-Rautenstrauch Syndrome 45 22 51 65
 
Wiedemann Rautenstrauch Syndrome 45
Progeroid Syndrome Neonatal 45

Characteristics:

Orphanet epidemiological data:

51
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 3455
ICD10 via Orphanet28 E34.8
MESH via Orphanet37 C536423
UMLS via Orphanet66 C0406586
UMLS65 C0406586

Summaries for Neonatal Progeroid Syndrome

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NIH Rare Diseases:45 Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. in most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. treatment is symptomatic and supportive. last updated: 4/15/2015

MalaCards based summary: Neonatal Progeroid Syndrome, also known as wiedemann-rautenstrauch syndrome, is related to down syndrome and breast cancer, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, large fontanelle/delayed fontanelle closure and frontal bossing/prominent forehead. An important gene associated with Neonatal Progeroid Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include skin, testes and bone.

Related Diseases for Neonatal Progeroid Syndrome

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Diseases related to Neonatal Progeroid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1down syndrome10.4
2breast cancer10.2
3pick disease10.2
4insulin-like growth factor i10.2
5pancreatic cancer10.2
6alport syndrome10.2
7leukemia10.2
8niemann-pick disease10.2
9vitamin b12 deficiency10.2
10artery disease10.2
11open-angle glaucoma10.2
12gingivitis10.2
13periodontal disease10.2
14carotid artery disease10.2
15pancreatitis10.2
16cerebrovascular disease10.2
17periodontitis10.2
18fasciitis10.2
19necrotizing fasciitis10.2
20brainstem auditory evoked responses10.2
21carcinoid syndrome10.2
22cardiomyopathy10.2
23cirrhotic cardiomyopathy10.2

Graphical network of the top 20 diseases related to Neonatal Progeroid Syndrome:



Diseases related to neonatal progeroid syndrome

Symptoms for Neonatal Progeroid Syndrome

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Symptoms:

 51 (show all 35)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • high forehead
  • triangular face
  • absent/decreased/thin eyebrows
  • absent/decreased lashes
  • microstomia/little mouth
  • hearing loss/hypoacusia/deafness
  • long hand/arachnodactyly
  • thin skin
  • lipoatrophy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • laryngomalacia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • intrauterine growth retardation
  • ectropion/entropion/eyelid eversion
  • beaked nose
  • premature eruption of teeth/natal teeth
  • prominent/bat ears
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • death in infancy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • macropenis/megapenis/large penis
  • restricted joint mobility/joint stiffness/ankylosis
  • chromosome breakage

Drugs & Therapeutics for Neonatal Progeroid Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neonatal Progeroid Syndrome

Genetic Tests for Neonatal Progeroid Syndrome

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Genetic tests related to Neonatal Progeroid Syndrome:

id Genetic test Affiliating Genes
1 Neonatal Progeroid Syndrome22

Anatomical Context for Neonatal Progeroid Syndrome

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MalaCards organs/tissues related to Neonatal Progeroid Syndrome:

33
Skin, Testes, Bone, Eye, Myeloid, Breast, T cells

Animal Models for Neonatal Progeroid Syndrome or affiliated genes

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Publications for Neonatal Progeroid Syndrome

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Articles related to Neonatal Progeroid Syndrome:

(show all 26)
idTitleAuthorsYear
1
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. (23512250)
2013
2
Gene-body mass index interactions are associated with methotrexate toxicity in rheumatoid arthritis. (24291656)
2013
3
CXCL16 and CXCR6 are upregulated in psoriasis and mediate cutaneous recruitment of human CD8+ T cells. (22113484)
2012
4
Selection and mutation for I+ Thalassemia in nonmalarial and malarial environments. (21534938)
2011
5
PRIC295, a Nuclear Receptor Coactivator, Identified from PPAR?- Interacting Cofactor Complex. (20885938)
2010
6
Potential lost productivity resulting from the global burden of uncorrected refractive error. (19565121)
2009
7
Influence of CRACC, a SLAM family receptor coupled to the adaptor EAT-2, on natural killer cell function. (19151721)
2009
8
Peroxynitrite inactivates human-tissue inhibitor of metalloproteinase-4. (18336787)
2008
9
Clinical implications of minimal residual disease monitoring by quantitative polymerase chain reaction in acute myeloid leukemia patients bearing nucleophosmin (NPM1) mutations. (17361227)
2007
10
Mechanism and functional significance of Itk autophosphorylation. (17897671)
2007
11
Estrogen receptor alpha-negative and progesterone receptor-positive breast cancer: lab error or real entity? (17189985)
2006
12
The clone and comparison of very virulent plus Marek's disease virus(vv+ DMV)648 strain glycoprotein E(gE) gene]. (12549019)
2001
13
Nevirapine-containing antiretroviral therapy in HIV-1 infected patients results in an anti-atherogenic lipid profile. (11740191)
2001
14
Human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine 5'-monophosphate cyclohydrolase. A bifunctional protein requiring dimerization for transformylase activity but not for cyclohydrolase activity. (11096114)
2001
15
Meizothrombin, an intermediate of prothrombin activation, stimulates human glioblastoma cells by interaction with PAR-1-type thrombin receptors. (10686592)
2000
16
In vivo protection of nigral dopamine neurons by lentiviral gene transfer of the novel GDNF-family member neublastin/artemin. (10673327)
2000
17
Beneficial effect of the addition of the 5-HT 2A/2C and alpha2 antagonist mianserin to ongoing haloperidol treatment in drug-resistant chronically hospitalized schizophrenic patients. (11004734)
2000
18
Does a predisposition to the metabolic syndrome sensitize women to develop pre-eclampsia? (10489109)
1999
19
Endotoxin tolerance alters macrophage membrane regulatory G proteins. (9575562)
1998
20
Positive transcriptional control elements within the SP6 kappa promoter decamer 3' flanking sequence. (8084335)
1994
21
Unilateral blepharospasm stemming from a thalamomesencephalic lesion. (8474503)
1993
22
Apert syndrome with frontonasal encephalocele. (4025404)
1985
23
Serologic and experimental investigations of contagious ecthyma in Alaska. (6644914)
1983
24
Hypertension, hypokalemia and hypoaldosteronism with suppressed renin: a clinical study of a patient with Liddle's syndrome. (6273144)
1981
25
Leprous phlebitis. (7189184)
1980
26
INBORN ERRORS OF METABOLISM: A VARIANT OF MAPLE SYRUP URINE DISEASE. (14250051)
1965

Variations for Neonatal Progeroid Syndrome

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Expression for genes affiliated with Neonatal Progeroid Syndrome

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Search GEO for disease gene expression data for Neonatal Progeroid Syndrome.

Pathways for genes affiliated with Neonatal Progeroid Syndrome

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GO Terms for genes affiliated with Neonatal Progeroid Syndrome

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Sources for Neonatal Progeroid Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet