FDH
MCID: FCL009
MIFTS: 57

Focal Dermal Hypoplasia (FDH) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases categories
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Summaries for Focal Dermal Hypoplasia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. last updated: 9/23/2011

MalaCards: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to microphthalmia and nevoid basal cell carcinoma syndrome, and has symptoms including camptodactyly of fingers, anomalies of hands and hypoplastic lungs/pulmonary hypoplasia/agenesis. An important gene associated with Focal Dermal Hypoplasia is PORCN (porcupine homolog (Drosophila)), and among its related pathways are beta-catenin independent WNT signaling and Wnt Pathway. Affiliated tissues include skin, eye and kidney, and related mouse phenotype adipose tissue.

Genetics Home Reference:21 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia:65 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:47 305600

GeneReviews summary for focal-dh

Aliases & Classifications for Focal Dermal Hypoplasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

focal dermal hypoplasia 8 9 19 43 20 22 21 47 10 49 62
goltz syndrome 8 19 43 21 49
goltz-gorlin syndrome 19 21 49
basal cell nevus syndrome 62
goltz gorlin syndrome 43
fodh 43
dhof 43
fdh 43


External Ids:

Disease Ontology8 DOID:2120
NCIt40 C84715
OMIM47 305600
MeSH35 D005489
SNOMED-CT58 205573006, 2298005
MESH via Orphanet36 D005489
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet59 205573006, 2298005
UMLS via Orphanet63 C0016395

Related Diseases for Focal Dermal Hypoplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to focal dermal hypoplasia

Symptoms for Focal Dermal Hypoplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

305600

Clinical features from OMIM:

305600

Symptoms:

49 (show all 70)
  • camptodactyly of fingers
  • anomalies of hands
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • aniridia/iris hypoplasia
  • tooth shape anomaly
  • pointed chin
  • alopecia
  • anodontia/oligodontia/hypodontia
  • skin tumors/lumps/epidermal cysts
  • spina bifida
  • upper limb polydactyly/hexadactyly
  • enamel anomaly
  • narrow nasal bridge
  • oligodactyly/ectrodactyly of toes
  • pulmonary veins anomalies
  • anetodermia/dermal atrophy
  • mediastinal anomalies
  • acute hepatic failure
  • choroidal anomalies/atrophy/choroideremia
  • duodenal atresia/stenosis/megaduodenum
  • abnormal fat distribution/lipodystrophy
  • rough trabeculation of bone
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of fingers
  • omphalocele/exomphalos
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • clavicle absent/abnormal
  • syndactyly of toes
  • ventricular septal defect/interventricular communication
  • skin hypoplasia/aplasia/atrophy
  • macules
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • ectopic/horseshoe/fused kidneys
  • nails anomalies
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • anomalies of teeth and dentition
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • dental malocclusion
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • corneal clouding/opacity/vascularisation
  • early death/lethality
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • epiphyseal anomaly
  • syndactyly of fingers/interdigital palm
  • telangiectasiae of the skin
  • warts/papillomas
  • lens dislocation/luxation/subluxation/ectopia lentis
  • cardiac septal defect
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • coloboma of iris
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • x-linked dominant inheritance
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • acute abdominal pain/colic
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • anomalies of ear and hearing
  • patent ductus arteriosus
  • strabismus/squint
  • thin skin
  • herniae
  • anomalies of the ribs
  • low set ears/posteriorly rotated ears

Drugs & Therapeutics for Focal Dermal Hypoplasia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Focal Dermal Hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

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20GeneTests, 22GTR
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Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia20 22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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33MalaCards
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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

33
Skin, Eye, Kidney, Bone, Lung, Uterus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8WLS, IKBKG, PORCN

Publications for Focal Dermal Hypoplasia

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52PubMed
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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
2
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
3
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. (22000280)
2012
4
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
5
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
6
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
7
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
8
Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome). (19012972)
2009
9
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. (17951029)
2008
10
Papillary adenoid hyperplasia in focal dermal hypoplasia. (18503862)
2008
11
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (17546030)
2007
12
Wnt signaling in focal dermal hypoplasia. (17597772)
2007
13
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
14
Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. (12787276)
2003
15
Focal dermal hypoplasia: a case report and review of literature. (15008304)
2003
16
Focal dermal hypoplasia: management of complex dental features. (11497004)
2001
17
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. (10586128)
1999
18
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. (10028871)
1998
19
What syndrome is this? Focal dermal hypoplasia (Goltz syndrome). (9796596)
1998
20
Focal dermal hypoplasia (Goltz's syndrome). (9361312)
1997
21
Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. (8919515)
1996
22
Focal dermal hypoplasia (Goltz syndrome). (20952892)
1995
23
Focal Dermal Hypoplasia (20301712)
1993
24
Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement. (8425976)
1993
25
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (7654591)
1993
26
Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations. (1318543)
1992
27
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. (1951439)
1991
28
Osteochondroma of humerus in focal dermal hypoplasia (Goltz) syndrome. (1794171)
1991
29
Anophthalmia in the focal dermal hypoplasia syndrome. (2404489)
1990
30
Focal dermal hypoplasia. (2080128)
1990
31
Focal dermal hypoplasia. Current concepts and differential diagnosis. (2778600)
1989
32
Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia. (3189414)
1988
33
The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases. (3201278)
1988
34
Multiple mesoectodermal defects in an infant. Focal dermal hypoplasia syndrome, or Goltz' syndrome. (3767408)
1986
35
Focal dermal hypoplasia syndrome. Case report and literature review. (6630607)
1983
36
Giant cell tumour of bone in focal dermal hypoplasia. (6883033)
1983
37
A case of focal dermal hypoplasia. (7083620)
1982
38
Focal dermal hypoplasia in a father and daughter. (7217396)
1981
39
Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. (7410885)
1980
40
Osteopathia striata and focal dermal hypoplasia. (531586)
1979
41
Focal dermal hypoplasia syndrome (a case report). (700884)
1978
42
Focal dermal hypoplasia syndrome. The second known case in Japan. (686730)
1978
43
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? (843447)
1977
44
Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature. (188606)
1977
45
Letter: Striated osteopathy in focal dermal hypoplasia. (1190805)
1975
46
Focal dermal hypoplasia. (4371807)
1974
47
Focal dermal hypoplasia (Goltz syndrome): a follow-up. (4375513)
1971
48
Picture of the month. Focal dermal hypoplasia (Goltz's syndrome). (4310577)
1969
49
Focal dermal hypoplasia. (5763557)
1969
50
FOCAL DERMAL HYPOPLASIA SYNDROME. (14051108)
1963

Variations for Focal Dermal Hypoplasia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Focal Dermal Hypoplasia:

64 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089
2PORCNp.Arg365GlyVAR_035090
3PORCNp.Ser136PheVAR_058899
4PORCNp.Gly168ArgVAR_058900
5PORCNp.Val258GluVAR_058902
6PORCNp.His341LeuVAR_058903
7PORCNp.Arg365GlnVAR_058904
8PORCNp.Cys385ArgVAR_058905
9PORCNp.Trp439ArgVAR_058906
10PORCNp.His252TyrVAR_065189
11PORCNp.Ser297LeuVAR_065190
12PORCNp.Leu331ArgVAR_065191
13PORCNp.Glu361ValVAR_065192
14PORCNp.Cys385TyrVAR_065193
15PORCNp.Ala374ProVAR_066061

Clinvar genetic disease variations for Focal Dermal Hypoplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1PORCNNM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs)duplicationPathogenicGRCh37Chr X, 48374313: 48374325
2PORCNNM_203473.2(PORCN): c.178G> A (p.Gly60Arg)single nucleotide variantPathogenicrs267606973GRCh37Chr X, 48369724: 48369724
3PORCNNM_203473.2(PORCN): c.370C> T (p.Arg124Ter)single nucleotide variantPathogenicrs137852218GRCh37Chr X, 48370320: 48370320
4PORCNNM_203473.2(PORCN): c.222G> A (p.Trp74Ter)single nucleotide variantPathogenicrs137852219GRCh37Chr X, 48369768: 48369768
5PORCNNM_203473.2(PORCN): c.1094G> A (p.Arg365Gln)single nucleotide variantPathogenicrs387906723GRCh37Chr X, 48374470: 48374470

Expression for genes affiliated with Focal Dermal Hypoplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Dermal Hypoplasia

Search GEO for disease gene expression data for Focal Dermal Hypoplasia.

Pathways for genes affiliated with Focal Dermal Hypoplasia

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50PathCards, 55Reactome, 61Tocris Bioscience
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Pathways related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3WLS, PORCN
2
Show member pathways
9.3WLS, PORCN

Compounds for genes affiliated with Focal Dermal Hypoplasia

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GO Terms for genes affiliated with Focal Dermal Hypoplasia

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16Gene Ontology
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Cellular components related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:0724879.3MSL2, MSL3

Biological processes related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone H4-K16 acetylationGO:0439849.3MSL2, MSL3
2chromatin organizationGO:0063259.2MSL2, MSL3
3positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.2WLS, IKBKG
4Wnt signaling pathwayGO:0160559.0WLS, PORCN

Products for genes affiliated with Focal Dermal Hypoplasia

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Sources for Focal Dermal Hypoplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet