FDH
MCID: FCL009
MIFTS: 64

Focal Dermal Hypoplasia (FDH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Focal Dermal Hypoplasia

MalaCards integrated aliases for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 57 11 24 19 42 58 75 73 28 12 5 43 14 71
Goltz Syndrome 57 11 24 19 42 58 75 73
Goltz-Gorlin Syndrome 57 11 24 19 42 58 73
Fodh 57 11 19 73
Fdh 57 11 19 73
Dhof 57 19 73
Goltz Gorlin Syndrome 19 73
Hypoplasia, Dermal, Focal 38

Characteristics:


Inheritance:

X-linked dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases (95%) are sporadic
ninety percent of cases are female
affected males are all result of new mutation


GeneReviews:

24
Penetrance Focal dermal hypoplasia appears to be highly penetrant in females, but the phenotypic severity can occasionally be mitigated by skewed x-chromosome inactivation....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:2120
OMIM® 57 305600
MeSH 43 D005489
NCIt 49 C84715
SNOMED-CT 68 205573006
MESH via Orphanet 44 D005489
ICD10 via Orphanet 32 Q82.8
UMLS via Orphanet 72 C0016395
Orphanet 58 ORPHA2092
MedGen 40 C0016395
UMLS 71 C0016395

Summaries for Focal Dermal Hypoplasia

MedlinePlus Genetics: 42 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.People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia.Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present.About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.

MalaCards based summary: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to chromosome 2q35 duplication syndrome and skin disease. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Signal Transduction and Class A/1 (Rhodopsin-like receptors). Affiliated tissues include skin, eye and retina, and related phenotypes are hearing impairment and abnormality of the nail

GARD: 19 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with Focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). 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 genetic changes in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of Focal dermal hypoplasia in females result from new genetic changes 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 genetic change in this gene that is not inherited.

OMIM®: 57 Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016). (305600) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present.

Orphanet: 58 A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.

Disease Ontology: 11 A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has material basis in heterozygous mutation in the PORCN gene on chromosome Xp11.23.

Wikipedia: 75 Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized... more...

GeneReviews: NBK1543

Related Diseases for Focal Dermal Hypoplasia

Diseases related to Focal Dermal Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 30.3 SUFU SHH PTCH1 PORCN GLI2 GLI1
2 skin disease 30.3 SHH PTCH1 GLI1 CTNNB1 CD79A ALB
3 basal cell carcinoma 1 30.3 PTCH2 PTCH1
4 colobomatous microphthalmia 30.3 SHH PTCH1 PORCN
5 microphthalmia 30.0 WNT3A SHH PORCN GLI2 CTNNB1
6 basal cell nevus syndrome 30.0 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
7 ellis-van creveld syndrome 29.8 SUFU SHH PTCH1 GLI2 GLI1
8 neural tube defects 29.4 WNT5A WNT3A SUFU SHH PTCH1 CTNNB1
9 polydactyly 29.4 SUFU SHH PTCH1 GLI2 GLI1
10 anus, imperforate 29.4 SHH GLI2 GLI1 CTNNB1
11 skin carcinoma 29.2 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
12 meningioma, familial 29.2 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
13 medulloblastoma 29.0 WNT5A WNT3 SUFU SHH PTCH2 PTCH1
14 basal cell carcinoma 28.9 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
15 tooth agenesis 28.8 WNT5A WNT3A WNT3 WNT10A WLS SHH
16 cleft palate, isolated 28.4 WNT5A WNT3A WNT3 WLS SHH PTCH1
17 orofacial cleft 27.8 WNT5A WNT3A WNT3 WNT10A SHH PTCH1
18 ectodermal dysplasia, trichoodontoonychial type 11.3
19 focal facial dermal dysplasia 3, setleis type 11.3
20 osteopathia striata with cranial sclerosis 11.2
21 encephalocraniocutaneous lipomatosis 11.2
22 hyperthyroxinemia, familial dysalbuminemic 11.1
23 nevoid hypermelanosis, linear and whorled 11.1
24 papilloma 10.5
25 alopecia 10.4
26 erythrokeratoderma ''en cocardes'' 10.4
27 split hand-foot malformation 10.4
28 coloboma of macula 10.4
29 hypertelorism 10.3
30 hemifacial hyperplasia 10.3
31 fryns microphthalmia syndrome 10.3
32 hyperthyroxinemia 10.3
33 gastroschisis 10.3
34 telangiectasis 10.3
35 skin atrophy 10.3
36 rare genetic skin disease 10.3
37 primary ovarian insufficiency 6 10.3 SUFU SHH
38 polydactyly, preaxial ii 10.3 SHH PTCH1
39 melanotic medulloblastoma 10.3 SUFU SHH
40 vulva basal cell carcinoma 10.3 SHH PTCH1
41 medullomyoblastoma 10.3 SUFU SHH
42 basal cell carcinoma, infundibulocystic 10.3 SUFU PTCH1
43 diaphragmatic hernia, congenital 10.3
44 split-hand/foot malformation 1 10.3
45 linear skin defects with multiple congenital anomalies 1 10.3
46 scoliosis 10.3
47 umbilical hernia 10.3
48 omphalocele 10.3
49 ectodermal dysplasia 10.3
50 cleft lip 10.3

Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to Focal Dermal Hypoplasia

Symptoms & Phenotypes for Focal Dermal Hypoplasia

Human phenotypes related to Focal Dermal Hypoplasia:

58 30 (show top 50) (show all 137)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
2 abnormality of the nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001597
3 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
4 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100585
5 split hand 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001171
6 hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001161
7 abnormality of dental morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006482
8 macule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012733
9 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
10 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
11 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
12 lower limb asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100559
13 papilloma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012740
14 abnormality of skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001000
15 abnormality of the middle ear 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000370
16 upper limb asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100560
17 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000963
18 split foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001839
19 dermal atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004334
20 abnormal palmar dermatoglyphics 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001018
21 tooth agenesis 30 Hallmark (90%) HP:0009804
22 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
23 coarse metaphyseal trabecularization 30 Hallmark (90%) HP:0100670
24 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
25 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
26 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
27 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
28 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0100543
29 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
30 horseshoe kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000085
31 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
32 subcutaneous nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001482
33 ectopia lentis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001083
34 hypoplasia of the iris 58 30 Frequent (33%) Frequent (79-30%)
HP:0007676
35 iris coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000612
36 facial asymmetry 58 30 Frequent (33%) Frequent (79-30%)
HP:0000324
37 chorioretinal coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000567
38 microphthalmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000568
39 spina bifida 58 30 Frequent (33%) Frequent (79-30%)
HP:0002414
40 erythema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010783
41 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000003
42 diastasis recti 58 30 Frequent (33%) Frequent (79-30%)
HP:0001540
43 short clavicles 58 30 Frequent (33%) Frequent (79-30%)
HP:0000894
44 short ribs 58 30 Frequent (33%) Frequent (79-30%)
HP:0000773
45 hypoplastic pelvis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008839
46 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
47 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
48 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
49 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008678
50 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
myelomeningocele
mental retardation (15%)

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
iris coloboma
anophthalmia
more
Abdomen External Features:
umbilical hernia
omphalocele
diastasis recti

Head And Neck Mouth:
cleft palate
cleft lip
papillomas (lip, gingiva)

Head And Neck Ears:
low-set ears
hearing loss, mixed
protruding, simple ears
narrow auditory canals

Skeletal Pelvis:
congenital hip dislocation
failure of pubic bone fusion

Genitourinary External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

Abdomen Gastrointestinal:
intestinal malrotation
hiatus hernia
anteriorly displaced anus
esophageal papillomas

Head And Neck Nose:
narrow nasal bridge
broad nasal tip
notched nasal alae

Skin Nails Hair Hair:
sparse hair
brittle hair
patchy alopecia (head, pubic area)

Skin Nails Hair Skin:
telangiectasia
skin atrophy
linear or reticular hyperpigmentation
localized cutaneous deposits of superficial fat
arborescent papillomas (axillae, periumbilical area, anus, vulva)
more
Skeletal Limbs:
osteopathia striata

Respiratory Larynx:
papillomatosis

Chest Diaphragm:
diaphragmatic hernia

Skeletal Skull:
asymmetric skull

Skeletal Spine:
scoliosis
spina bifida occulta

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

Skeletal:
joint laxity
skeletal asymmetry

Head And Neck Face:
facial asymmetry
pointed chin

Head And Neck Teeth:
hypodontia
oligodontia
enamel hypoplasia
malocclusion
delayed eruption
more
Skeletal Hands:
short metacarpal
ectrodactyly
postaxial polydactyly
short phalanges
syndactyly (75%)
more
Skeletal Feet:
ectrodactyly
short metatarsal
polydactyly
syndactyly
missing toes
more
Genitourinary Ureters:
bifid ureter

Chest Ribs Sternum Clavicles And Scapulae:
midclavicular hypoplasia
midclavicular aplasia
rib hypoplasia

Chest Breasts:
supernumerary nipples
nipple hypoplasia
asymmetric breast

Skin Nails Hair Nails:
absent toenails
absent fingernails
dystrophic nails (spooned, grooves)

Head And Neck Head:
microcephaly, mild

Clinical features from OMIM®:

305600 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.23 ADH5 ADH6 ALB ALDH1L1 CD79A CTNNB1
2 no effect GR00402-S-2 10.23 ADH5 ADH6 ALB ALDH1L1 CD79A CTNNB1

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.39 ALDH1L1 CD79A CTNNB1 GLI1 GLI2 PORCN
2 homeostasis/metabolism MP:0005376 10.38 ADH5 ALB ALDH1L1 CD79A CTNNB1 GLI2
3 normal MP:0002873 10.37 ALB CD79A CTNNB1 GLI1 GLI2 PORCN
4 growth/size/body region MP:0005378 10.36 CTNNB1 GLI1 GLI2 MTHFS PORCN PTCH1
5 limbs/digits/tail MP:0005371 10.33 CTNNB1 GLI1 GLI2 PORCN PTCH1 SHH
6 renal/urinary system MP:0005367 10.27 ALB CD79A CTNNB1 GLI1 PORCN PTCH1
7 digestive/alimentary MP:0005381 10.27 ALB CTNNB1 GLI1 GLI2 PORCN PTCH1
8 neoplasm MP:0002006 10.25 ALB CD79A CTNNB1 GLI1 MTHFS PTCH1
9 no phenotypic analysis MP:0003012 10.24 CD79A CTNNB1 GLI1 GLI2 PTCH1 SHH
10 embryo MP:0005380 10.22 CTNNB1 GLI1 GLI2 PORCN PTCH1 SHH
11 muscle MP:0005369 10.21 ALB CTNNB1 GLI2 PTCH1 PTCH2 SHH
12 endocrine/exocrine gland MP:0005379 10.19 ALB CTNNB1 GLI1 GLI2 PORCN PTCH1
13 craniofacial MP:0005382 10.17 CTNNB1 GLI1 GLI2 PORCN PTCH1 SHH
14 hearing/vestibular/ear MP:0005377 10.07 CTNNB1 GLI2 PTCH1 SHH WLS WNT3A
15 reproductive system MP:0005389 10.07 CTNNB1 GLI1 GLI2 PORCN PTCH1 PTCH2
16 respiratory system MP:0005388 10.06 CTNNB1 GLI1 GLI2 PTCH1 SHH SUFU
17 skeleton MP:0005390 10.06 CTNNB1 GLI1 GLI2 PORCN PTCH1 SHH
18 vision/eye MP:0005391 9.91 ALDH1L1 CTNNB1 GLI2 MTHFS PORCN PTCH1
19 mortality/aging MP:0010768 9.83 ADH5 ALB CD79A CTNNB1 GLI1 GLI2
20 taste/olfaction MP:0005394 9.46 CTNNB1 PTCH1 SHH WNT10A
21 integument MP:0010771 9.28 CTNNB1 GLI2 PORCN PTCH1 PTCH2 SHH

Drugs & Therapeutics for Focal Dermal Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
2 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders Active, not recruiting NCT00691223

Search NIH Clinical Center for Focal Dermal Hypoplasia

Cochrane evidence based reviews: focal dermal hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

Genetic tests related to Focal Dermal Hypoplasia:

# Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia 28 PORCN

Anatomical Context for Focal Dermal Hypoplasia

Organs/tissues related to Focal Dermal Hypoplasia:

MalaCards : Skin, Eye, Retina, Kidney, Bone, Brain, Breast

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 735)
# Title Authors PMID Year
1
Novel PORCN mutations in focal dermal hypoplasia. 62 24 57 5
19863546 2009
2
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. 62 24 57 5
19586929 2009
3
PORCN mutations in focal dermal hypoplasia: coping with lethality. 62 24 57 5
19309688 2009
4
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. 62 24 57 5
17546031 2007
5
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. 62 24 57 5
17546030 2007
6
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. 62 57 5
18325042 2008
7
Cognitive and psychological functioning in focal dermal hypoplasia. 62 24 57
26818018 2016
8
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. 62 24 57
21484999 2011
9
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. 62 24 57
12116212 2002
10
Focal dermal hypoplasia syndrome. An update. 62 24 57
1497368 1992
11
New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy. 62 24 57
2063890 1991
12
Focal dermal hypoplasia in a father and daughter. 62 24 57
7217396 1981
13
Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. 62 24 57
5416790 1970
14
FOCAL DERMAL HYPOPLASIA SYNDROME. 62 24 57
14051108 1963
15
International research symposium on Goltz syndrome. 62 57
26834080 2016
16
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. 62 5
25640089 2015
17
Aplasia cutis congenita associated with Goltz syndrome in a male neonate. 62 57
20420028 2010
18
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. 62 5
19277062 2009
19
Atypical facial clefting in a patient with Goltz syndrome. 62 57
16761285 2006
20
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. 62 57
10602117 2000
21
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. 62 57
10586128 1999
22
Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. 62 57
10398252 1999
23
Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. 62 57
9220199 1997
24
Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. 62 57
8882775 1996
25
Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). 62 57
7639315 1995
26
Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement. 62 57
8425976 1993
27
Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies. 62 57
1497362 1992
28
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. 62 57
1951439 1991
29
Focal dermal hypoplasia (Goltz syndrome). 62 57
2325092 1990
30
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? 62 57
2541064 1989
31
X-linked dominant inherited diseases with lethality in hemizygous males. 62 57
6873941 1983
32
Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome). 62 57
477680 1979
33
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? 62 57
843447 1977
34
Focal dermal hypoplasia (Goltz syndrome) in a male. A case report. 62 57
1273724 1976
35
Letter: Striated osteopathy in focal dermal hypoplasia. 62 57
1190805 1975
36
Focal dermal hypoplasia symdrome in a male. 62 57
1126054 1975
37
Focal dermal hypoplasia. 62 57
4426129 1974
38
Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. 62 57
4990274 1970
39
Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia. 62 57
4292216 1967
40
Focal dermal hypoplasia. 62 57
13948891 1962
41
Revisiting histopathologic findings in Goltz syndrome. 62 24
26956940 2016
42
The orthopedic characterization of Goltz syndrome. 62 24
26867035 2016
43
Gynecologic findings in Goltz syndrome: A case series. 62 24
27001927 2016
44
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). 62 24
27001925 2016
45
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. 62 24
27001926 2016
46
Oral phenotype and variation in focal dermal hypoplasia. 62 24
26843121 2016
47
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. 62 24
26853229 2016
48
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 62 24
26858134 2016
49
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 62 24
25026905 2015
50
Successful treatment of diffuse esophageal papillomatosis with balloon-assisted radiofrequency ablation in a patient with Goltz syndrome. 62 24
25314164 2014

Variations for Focal Dermal Hypoplasia

ClinVar genetic disease variations for Focal Dermal Hypoplasia:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PORCN NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) DUP Pathogenic
10700 rs587776737 GRCh37: X:48374310-48374311
GRCh38: X:48515922-48515923
2 PORCN NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) SNV Pathogenic
10702 rs137852218 GRCh37: X:48370320-48370320
GRCh38: X:48511932-48511932
3 PORCN NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) SNV Pathogenic
10703 rs137852219 GRCh37: X:48369768-48369768
GRCh38: X:48511380-48511380
4 PORCN NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) SNV Pathogenic
987513 rs2061714949 GRCh37: X:48374455-48374455
GRCh38: X:48516067-48516067
5 PORCN NM_203475.3(PORCN):c.1023+2T>A SNV Pathogenic
487811 rs1556975151 GRCh37: X:48374183-48374183
GRCh38: X:48515795-48515795
6 PORCN NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) SNV Pathogenic
813937 rs1602070472 GRCh37: X:48369829-48369829
GRCh38: X:48511441-48511441
7 PORCN NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) SNV Pathogenic
694604 rs2061661896 GRCh37: X:48368290-48368290
GRCh38: X:48509902-48509902
8 PORCN NM_203475.3(PORCN):c.49_80del (p.Cys17fs) DEL Pathogenic
998041 rs2061661681 GRCh37: X:48368257-48368288
GRCh38: X:48509869-48509900
9 PORCN NM_203475.3(PORCN):c.374-2A>G SNV Pathogenic
1315505 GRCh37: X:48370712-48370712
GRCh38: X:48512324-48512324
10 PORCN NM_203475.3(PORCN):c.946+2_946+3del MICROSAT Pathogenic
1323491 GRCh37: X:48373013-48373014
GRCh38: X:48514625-48514626
11 PORCN NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) SNV Pathogenic
10701 rs267606973 GRCh37: X:48369724-48369724
GRCh38: X:48511336-48511336
12 PORCN NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) SNV Pathogenic
242872 rs1114167283 GRCh37: X:48369814-48369814
GRCh38: X:48511426-48511426
13 PORCN NM_203475.3(PORCN):c.1356del (p.Cys453fs) DEL Likely Pathogenic
691998 rs1602085557 GRCh37: X:48378834-48378834
GRCh38: X:48520446-48520446
14 PORCN NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) SNV Likely Pathogenic
1298380 GRCh37: X:48372690-48372690
GRCh38: X:48514302-48514302
15 PORCN NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter) SNV Likely Pathogenic
1338975 GRCh37: X:48375583-48375583
GRCh38: X:48517195-48517195
16 PORCN NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) SNV Likely Pathogenic
984654 rs2061701575 GRCh37: X:48372951-48372951
GRCh38: X:48514563-48514563
17 PORCN NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) SNV Likely Pathogenic
996151 rs2061711638 GRCh37: X:48374159-48374159
GRCh38: X:48515771-48515771
18 PORCN NM_203475.3(PORCN):c.329+1G>A SNV Likely Pathogenic
828164 rs1602070594 GRCh37: X:48369876-48369876
GRCh38: X:48511488-48511488
19 PORCN NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) SNV Likely Pathogenic
374245 rs1057519006 GRCh37: X:48370986-48370986
GRCh38: X:48512598-48512598
20 PORCN NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) INDEL Uncertain Significance
487812 rs1556974808 GRCh37: X:48372920-48372921
GRCh38: X:48514532-48514533
21 PORCN NM_203475.3(PORCN):c.964C>G (p.Leu322Val) SNV Uncertain Significance
1027956 rs782200118 GRCh37: X:48374122-48374122
GRCh38: X:48515734-48515734

UniProtKB/Swiss-Prot genetic disease variations for Focal Dermal Hypoplasia:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 PORCN p.Gly60Arg VAR_035089 rs267606973
2 PORCN p.Arg365Gly VAR_035090
3 PORCN p.Ser136Phe VAR_058899
4 PORCN p.Gly168Arg VAR_058900 rs1602072227
5 PORCN p.Val258Glu VAR_058902
6 PORCN p.His341Leu VAR_058903
7 PORCN p.Arg365Gln VAR_058904
8 PORCN p.Cys385Arg VAR_058905
9 PORCN p.Trp439Arg VAR_058906
10 PORCN p.His252Tyr VAR_065189
11 PORCN p.Ser297Leu VAR_065190
12 PORCN p.Leu331Arg VAR_065191
13 PORCN p.Glu361Val VAR_065192
14 PORCN p.Cys385Tyr VAR_065193
15 PORCN p.Ala374Pro VAR_066061

Copy number variations for Focal Dermal Hypoplasia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 263165 X 47300000 49700000 Microdeletions PORCN focal dermal hypoplasia

Expression for Focal Dermal Hypoplasia

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

Pathways for Focal Dermal Hypoplasia

Pathways related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1 13.7 WNT5A WNT3A WNT3 WNT10A WLS SUFU
2
Show member pathways
13.37 WNT5A WNT3A WNT3 WNT10A SHH PTCH2
3
Show member pathways
13.24 GLI1 PTCH1 PTCH2 SUFU WNT10A WNT3
4
Show member pathways
12.86 CTNNB1 PORCN WLS WNT10A WNT3 WNT3A
5
Show member pathways
12.8 WNT5A WNT3A WNT3 WNT10A PORCN CTNNB1
6
Show member pathways
12.79 WNT5A WNT3A WNT3 WNT10A CTNNB1
7 12.68 WNT5A WNT3A WNT3 WNT10A PORCN CTNNB1
8
Show member pathways
12.47 WNT5A WNT3A WNT3 WNT10A CTNNB1
9
Show member pathways
12.45 WNT5A WNT3A WNT3 WNT10A CTNNB1
10 12.43 WNT5A WNT3A WNT3 WNT10A CTNNB1
11
Show member pathways
12.42 SUFU SHH PTCH1 GLI2 GLI1
12
Show member pathways
12.36 WNT5A WNT3A WNT3 WNT10A SHH PTCH2
13 12.2 WNT5A WNT3A WNT3 WNT10A CTNNB1
14 12.18 WNT5A WNT3A WNT3 WNT10A CTNNB1
15
Show member pathways
12.11 WNT5A WNT3A WNT3 WNT10A CTNNB1
16 12.09 WNT5A WNT3A WNT3 WNT10A CTNNB1
17 12.08 WNT5A WNT3A SHH ALB
18 11.9 CTNNB1 WNT10A WNT3 WNT3A WNT5A
19
Show member pathways
11.89 WNT3A SHH CTNNB1
20
Show member pathways
11.77 WNT5A WNT3A WNT3 WNT10A WLS PORCN
22 11.6 CTNNB1 WNT10A WNT3 WNT3A WNT5A
23 11.54 WNT5A WNT3A SUFU SHH PTCH2 PTCH1
24 11.52 WNT5A WNT3A SHH
25 11.48 SHH GLI2 GLI1
26 11.46 WNT5A WNT3A WNT3 WNT10A CTNNB1
27 11.42 SHH PTCH1 GLI2 GLI1
28
Show member pathways
11.37 SHH PTCH2 PTCH1 GLI2
29
Show member pathways
11.35 GLI1 GLI2 PTCH1
30 11.3 SUFU SHH PTCH1 GLI2 GLI1
31 11.29 SHH GLI2 GLI1
32 11.25 CTNNB1 WNT3A WNT5A
33 11.06 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
34 11.05 GLI1 GLI2 PTCH1 SHH WNT5A
35 10.78 SHH PTCH1 GLI1
36 10.62 ALDH1L1 ADH5
37 10.57 SHH PTCH1

GO Terms for Focal Dermal Hypoplasia

Cellular components related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 10.02 WNT5A WNT3A WNT3 SHH ALB
2 ciliary tip GO:0097542 9.73 SUFU GLI2 GLI1
3 endocytic vesicle membrane GO:0030666 9.65 WNT5A WNT3A WNT3 WLS PTCH1
4 ciliary base GO:0097546 9.63 SUFU GLI2 GLI1
5 GLI-SUFU complex GO:1990788 9.02 SUFU GLI2 GLI1

Biological processes related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.59 WNT5A WNT3A SHH PTCH1 GLI2 GLI1
2 positive regulation of gene expression GO:0010628 10.52 CTNNB1 SHH WNT10A WNT3 WNT3A WNT5A
3 axon guidance GO:0007411 10.37 WNT5A WNT3A WNT3 SHH GLI2
4 negative regulation of canonical Wnt signaling pathway GO:0090090 10.34 WNT5A SHH GLI1 CTNNB1
5 heart looping GO:0001947 10.24 SHH SUFU WNT3A WNT5A
6 lung development GO:0030324 10.24 WNT5A SHH GLI2 GLI1 CTNNB1
7 odontogenesis of dentin-containing tooth GO:0042475 10.23 SHH GLI2 CTNNB1
8 branching involved in ureteric bud morphogenesis GO:0001658 10.21 SHH PTCH1 CTNNB1
9 kidney development GO:0001822 10.21 WNT5A SHH GLI2 CTNNB1
10 positive regulation of Wnt signaling pathway GO:0030177 10.2 SHH WLS WNT3
11 osteoblast differentiation GO:0001649 10.2 WNT3A GLI2 GLI1 CTNNB1
12 cell fate commitment GO:0045165 10.2 WNT5A WNT3A WNT3 WNT10A SHH
13 neuron differentiation GO:0030182 10.2 CTNNB1 GLI2 SHH WNT10A WNT3 WNT3A
14 embryonic forelimb morphogenesis GO:0035115 10.19 CTNNB1 SHH WNT3
15 hair follicle morphogenesis GO:0031069 10.18 CTNNB1 GLI2 SHH WNT10A
16 embryonic hindlimb morphogenesis GO:0035116 10.17 CTNNB1 SHH WNT3
17 negative regulation of axon extension involved in axon guidance GO:0048843 10.17 WNT3 WNT3A WNT5A
18 cell population proliferation GO:0008283 10.16 WNT5A WNT3A SHH GLI2 CTNNB1
19 proximal/distal pattern formation GO:0009954 10.16 GLI2 GLI1 CTNNB1
20 embryonic digit morphogenesis GO:0042733 10.16 WNT5A SHH GLI2 CTNNB1
21 pattern specification process GO:0007389 10.14 SHH PTCH1 GLI2
22 anterior/posterior axis specification GO:0009948 10.14 WNT3 WLS CTNNB1
23 embryonic limb morphogenesis GO:0030326 10.13 PTCH1 SHH WNT5A
24 Wnt signaling pathway GO:0016055 10.13 WNT5A WNT3A WNT3 WNT10A WLS PORCN
25 negative regulation of smoothened signaling pathway GO:0045879 10.11 SUFU PTCH2 PTCH1 GLI2
26 hindbrain development GO:0030902 10.1 WLS SHH GLI2 CTNNB1
27 canonical Wnt signaling pathway GO:0060070 10.1 WNT5A WNT3A WNT3 WNT10A SHH CTNNB1
28 mammary gland development GO:0030879 10.09 GLI2 PTCH1 WNT3A
29 prostate gland development GO:0030850 10.09 GLI1 PTCH1 SHH
30 positive regulation of mesenchymal cell proliferation GO:0002053 10.07 WNT5A SHH CTNNB1
31 embryonic foregut morphogenesis GO:0048617 10.06 SHH CTNNB1
32 dorsal/ventral axis specification GO:0009950 10.06 WNT3 CTNNB1
33 positive regulation of skeletal muscle tissue development GO:0048643 10.06 WNT3A SHH CTNNB1
34 ethanol oxidation GO:0006069 10.05 ADH6 ADH5
35 positive regulation of epidermal cell differentiation GO:0045606 10.05 PTCH1 PTCH2
36 lung-associated mesenchyme development GO:0060484 10.05 CTNNB1 SHH
37 epithelial cell proliferation involved in prostate gland development GO:0060767 10.05 CTNNB1 SHH
38 spinal cord motor neuron differentiation GO:0021522 10.05 SHH PTCH1 GLI2
39 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 10.04 WNT5A WNT3A
40 somite development GO:0061053 10.04 WNT5A SHH PTCH1
41 positive regulation of stem cell proliferation GO:2000648 10.03 WNT5A GLI2 CTNNB1
42 mesenchymal cell proliferation involved in lung development GO:0060916 10.02 SHH CTNNB1
43 embryonic organ development GO:0048568 10.02 SHH PTCH1 CTNNB1
44 cerebellar cortex morphogenesis GO:0021696 10.02 GLI2 GLI1
45 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 10.01 WNT3 CTNNB1
46 epidermal cell fate specification GO:0009957 10.01 PTCH2 PTCH1
47 negative regulation of dopaminergic neuron differentiation GO:1904339 10.01 WNT3A SHH
48 positive regulation of epithelial cell proliferation involved in prostate gland development GO:0060769 10.01 SHH CTNNB1
49 hindgut morphogenesis GO:0007442 10.01 GLI2 SHH WNT5A
50 dorsal/ventral pattern formation GO:0009953 10.01 SHH PTCH1 GLI2 GLI1 CTNNB1

Molecular functions related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.73 SHH PTCH1
2 alcohol dehydrogenase activity, zinc-dependent GO:0004024 9.71 ADH6 ADH5
3 hedgehog family protein binding GO:0097108 9.67 PTCH2 PTCH1
4 alcohol dehydrogenase (NAD+) activity GO:0004022 9.63 ADH6 ADH5
5 smoothened binding GO:0005119 9.56 PTCH1 PTCH2
6 receptor ligand activity GO:0048018 9.56 WNT5A WNT3A WNT3 WNT10A
7 hedgehog receptor activity GO:0008158 9.46 PTCH1 PTCH2
8 alcohol dehydrogenase [NAD(P)+] activity GO:0018455 9.32 ADH6 ADH5
9 frizzled binding GO:0005109 9.23 WNT5A WNT3A WNT3 WNT10A

Sources for Focal Dermal Hypoplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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