SFM
MCID: SCH078
MIFTS: 59

Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome:

Name: Schimmelpenning-Feuerstein-Mims Syndrome 57 72
Nevus Sebaceus of Jadassohn 57 12 73 20 58 72
Organoid Nevus Phakomatosis 57 12 20 72 70
Linear Nevus Sebaceous Syndrome 12 20 6 15
Jadassohn Nevus Phakomatosis 57 12 20 72
Sfm Syndrome 57 12 20 72
Jnp 57 12 20 72
Schimmelpenning Syndrome 12 58 72
Solomon Syndrome 12 58 72
Schimmelpenning Feuerstein Mims Syndrome 12 20
Linear Sebaceous Nevus Syndrome 57 72
Nevus Sebaceus Syndrome 12 58
Organoid Nevus Syndrome 12 58
Sfm 57 72
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 57
Epidermal Nevus Syndrome, Formerly 57
Jadassohn Nevus Phakomatosis; Jnp 57
Sebaceous Nevus Syndrome, Linear 57
Sebaceous Nevus Syndrome Linear 20
Linear Nevus Sebaceus Syndrome 58
Nevus, Sebaceous of Jadassohn 44
Sebaceous of Jadassohn Nevus 17
Epidermal Nevus Syndrome 72
Nevus Sebaceous 70
Organoid Nevus 6
Ss 72

Characteristics:

Orphanet epidemiological data:

58
linear nevus sebaceus syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mosaicism

Miscellaneous:
onset of skin lesions at birth
extracutaneous manifestations are variable
secondary tumors develop within the skin lesions


HPO:

31
schimmelpenning-feuerstein-mims syndrome:
Inheritance somatic mosaicism sporadic


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Schimmelpenning-Feuerstein-Mims Syndrome

GARD : 20 Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic ). It can be caused by a somatic mutation in any of several genes. Mutations that cause LNSS occur after fertilization and are only present in some body cells ( mosaicism ). Treatment is directed towards the specific symptoms in each person.

MalaCards based summary : Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to ras-associated autoimmune leukoproliferative disorder and fibrous dysplasia, and has symptoms including seizures An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and tongue, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has material basis in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.

OMIM® : 57 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Wikipedia : 73 Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more...

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome

Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 ras-associated autoimmune leukoproliferative disorder 31.1 NRAS KRAS HRAS
2 fibrous dysplasia 30.8 GNAS FGFR1 FGF23
3 rickets 30.7 SLC34A3 PHEX MEPE FGF23 ENPP1
4 encephalocraniocutaneous lipomatosis 30.7 KRAS FGFR1
5 hypophosphatemic rickets, x-linked recessive 30.7 SLC34A3 PHEX MEPE FGF23 ENPP1
6 oncogenic osteomalacia 30.7 PHEX MEPE FGF23
7 arteriovenous malformation 30.6 LRRC56 KRAS HRAS
8 spitz nevus 30.5 LRRC56 HRAS
9 nevus, epidermal 30.5 PHEX NRAS MEPE LRRC56 KRAS HRAS
10 costello syndrome 30.4 LRRC56 KRAS HRAS
11 osteomalacia 30.4 SLC34A3 PHEX MEPE FGF23 ENPP1
12 plasma cell neoplasm 30.3 NRAS LRRC56 KRAS HRAS FGFR3
13 myeloma, multiple 30.2 NRAS LRRC56 KRAS HRAS FGFR3
14 hypophosphatemia 30.2 SLC34A3 PHEX MEPE FGFR1 FGF23 ENPP1
15 pilocytic astrocytoma 30.2 NRAS KRAS HRAS GNAS FGFR1
16 bladder urothelial carcinoma 30.1 NRAS LRRC56 KRAS HRAS FGFR3 FGFR1
17 bone disease 30.1 SLC34A3 PHEX FGFR3 FGFR1 FGF23
18 rhabdomyosarcoma 30.0 NRAS LRRC56 KRAS HRAS FGFR3 FGFR1
19 rasopathy 30.0 NRAS LRRC56 KRAS HRAS FGFR3 FGFR1
20 hypophosphatemic rickets, x-linked dominant 30.0 SLC34A3 PHEX MEPE GALNT3 FGFR1 FGF23
21 hemimegalencephaly 11.4
22 didymosis aplasticosebacea 11.3
23 becker nevus syndrome 11.2
24 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.2
25 hepatic flexure cancer 10.5 KRAS HRAS
26 trachea carcinoma in situ 10.5 KRAS HRAS
27 signet ring basal cell carcinoma 10.5 KRAS HRAS
28 cobblestone retinal degeneration 10.5 KRAS HRAS
29 cataract 10.5
30 alopecia 10.5
31 precocious puberty 10.5
32 immature teratoma of ovary 10.5 KRAS HRAS
33 pancreatic signet ring cell adenocarcinoma 10.5 KRAS HRAS
34 descending colon cancer 10.5 KRAS HRAS
35 meningeal melanomatosis 10.5 NRAS HRAS
36 ampulla of vater benign neoplasm 10.5 KRAS HRAS
37 transverse colon cancer 10.5 KRAS HRAS
38 epidermolytic nevus 10.5 NRAS FGFR3
39 urachal adenocarcinoma 10.5 KRAS GNAS
40 periampullary adenoma 10.5 KRAS HRAS
41 malignant anus melanoma 10.4 NRAS HRAS
42 conjunctival nevus 10.4 NRAS HRAS
43 bone giant cell sarcoma 10.4 KRAS HRAS
44 malignant dermis tumor 10.4 NRAS HRAS
45 central nervous system melanocytic neoplasm 10.4 NRAS HRAS
46 gallbladder benign neoplasm 10.4 KRAS HRAS
47 malignant skin fibrous histiocytoma 10.4 NRAS HRAS
48 adenosquamous lung carcinoma 10.4 KRAS HRAS
49 acneiform dermatitis 10.4 NRAS KRAS HRAS
50 mucinous lung adenocarcinoma 10.4 KRAS HRAS

Graphical network of the top 20 diseases related to Schimmelpenning-Feuerstein-Mims Syndrome:



Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome

Symptoms & Phenotypes for Schimmelpenning-Feuerstein-Mims Syndrome

Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 genu recurvatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002816
6 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
7 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
8 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
9 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
10 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
11 iris coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000612
12 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
13 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
14 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
15 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
16 cavernous hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001048
17 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
18 asymmetric growth 58 31 hallmark (90%) Very frequent (99-80%) HP:0100555
19 seizure 31 hallmark (90%) HP:0001250
20 hypotonia 31 hallmark (90%) HP:0001252
21 irregular hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007400
22 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
23 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
24 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
25 porencephalic cyst 31 frequent (33%) HP:0002132
26 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
27 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
28 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
29 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
30 precocious puberty 31 occasional (7.5%) HP:0000826
31 corneal opacity 31 occasional (7.5%) HP:0007957
32 ophthalmoplegia 31 occasional (7.5%) HP:0000602
33 hyperphosphaturia 31 occasional (7.5%) HP:0003109
34 seizures 58 Very frequent (99-80%)
35 osteopenia 31 HP:0000938
36 muscular hypotonia 58 Very frequent (99-80%)
37 short stature 31 HP:0004322
38 ichthyosis 31 HP:0008064
39 horseshoe kidney 31 HP:0000085
40 coarctation of aorta 31 HP:0001680
41 kyphoscoliosis 31 HP:0002751
42 abnormality of the eye 58 Frequent (79-30%)
43 ventriculomegaly 58 Very frequent (99-80%)
44 recurrent fractures 31 HP:0002757
45 abnormality of dental morphology 31 HP:0006482
46 hemangioma 31 HP:0001028
47 abnormality of finger 31 HP:0001167
48 hemihypertrophy 31 HP:0001528
49 hypopigmentation of the skin 31 HP:0001010
50 basal cell carcinoma 31 HP:0002671

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hemimegalencephaly
mental retardation
neurologic abnormalities in about 7%

Growth Height:
short stature

Cardiovascular Vascular:
coarctation of aorta

Skin Nails Hair Skin:
hemangioma
ichthyosis hystrix
linear nevus sebaceous, often in midfacial area
lesions follow the lines of blaschko
nevus unius lateris
more
Head And Neck Head:
cranial asymmetry

Head And Neck Eyes:
lid lipodermoid
coloboma of eyelids, iris, and choroid
ophthalmoplegia (in some)
corneal clouding (in some)

Skeletal Hands:
finger abnormalities

Skin Nails Hair Hair:
alopecia within lesion

Laboratory Abnormalities:
phosphaturia (in some)
phosphaturia may disappear after a long period of time

Skeletal:
osteopenia
recurrent fractures
bone deformities

Genitourinary Kidneys:
horseshoe kidney

Skeletal Spine:
kyphoscoliosis

Neoplasia:
basal cell carcinoma
syringocystadenoma papilliferum
central giant cell granuloma
trichoblastoma

Growth Other:
growth retardation
asymmetric overgrowth

Head And Neck Teeth:
pigmented, malformed teeth

Skeletal Feet:
toe abnormalities

Endocrine Features:
hypophosphatemic vitamin d-resistant rickets (in some)
precocious puberty (less common)

Clinical features from OMIM®:

163200 (Updated 05-Apr-2021)

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome:


seizures

GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10 HRAS KRAS
2 Decreased viability GR00055-A-2 10 HRAS KRAS
3 Decreased viability GR00055-A-3 10 KRAS
4 Decreased viability GR00106-A-0 10 KRAS
5 Decreased viability GR00221-A-1 10 FGFR1 FGFR3 HRAS KRAS NRAS
6 Decreased viability GR00221-A-2 10 FGFR1 FGFR3 HRAS KRAS
7 Decreased viability GR00221-A-3 10 FGFR3 HRAS NRAS
8 Decreased viability GR00249-S 10 FGFR3
9 Decreased viability GR00301-A 10 KRAS
10 Decreased viability GR00381-A-1 10 KRAS
11 Decreased viability GR00386-A-1 10 FGFR1
12 Reduced mammosphere formation GR00396-S 9.17 GALNT3 GNAS HRAS KRAS MEPE NRAS

MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ACAT2 ARFGEF2 ENPP1 FGF23 FGFR1 FGFR3
2 homeostasis/metabolism MP:0005376 10.17 ACAT2 CMPK2 ENPP1 FGF23 FGFR1 FGFR3
3 craniofacial MP:0005382 10.09 ENPP1 FGFR1 FGFR3 GALNT3 GNAS HRAS
4 digestive/alimentary MP:0005381 10.06 FGF23 FGFR1 FGFR3 GALNT3 HRAS KRAS
5 integument MP:0010771 9.91 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
6 limbs/digits/tail MP:0005371 9.81 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
7 renal/urinary system MP:0005367 9.65 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
8 skeleton MP:0005390 9.44 CMPK2 ENPP1 FGF23 FGFR1 FGFR3 GALNT3

Drugs & Therapeutics for Schimmelpenning-Feuerstein-Mims Syndrome

Drugs for Schimmelpenning-Feuerstein-Mims Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Antibodies, Monoclonal Phase 4
4 Mitogens Phase 3
5 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Active, not recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
2 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
3 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23, an Antibody to FGF23, in Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)-Associated Osteomalacia Completed NCT02304367 Phase 2
4 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
5 An Open Label Trial to Assess the Safety and Efficacy of Burosumab in a Single Patient With Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS) Active, not recruiting NCT03993821 Early Phase 1 Burosumab

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome

Cochrane evidence based reviews: nevus, sebaceous of jadassohn

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome:

40
Skin, Eye, Tongue, Cerebellum, Kidney, Bone, Brain

Publications for Schimmelpenning-Feuerstein-Mims Syndrome

Articles related to Schimmelpenning-Feuerstein-Mims Syndrome:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 6 57 61
20949522 2010
2
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. 61 57 6
12835555 2003
3
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 6 57
24006476 2014
4
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 6 57
22683711 2012
5
Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. 57 61
9007330 1996
6
Familial nevus sebaceus of Jadassohn: occurrence in three generations. 61 57
2347973 1990
7
Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? 61 57
4969985 1968
8
LIFE HISTORY OF ORGANOID NEVI. SPECIAL REFERENCE TO NEVUS SEBACEUS OF JADASSOHN. 57 61
14295518 1965
9
Activating HRAS mutation in nevus spilus. 6
24390138 2014
10
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. 6
24129065 2014
11
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 6
23392294 2013
12
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. 6
23884457 2013
13
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. 6
23096712 2013
14
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
15
HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. 6
22087699 2011
16
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 6
21079152 2011
17
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 6
20805368 2010
18
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. 6
18642361 2009
19
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 6
18633438 2009
20
Severe neonatal manifestations of Costello syndrome. 6
18039947 2008
21
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. 6
17412879 2007
22
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 6
17332249 2007
23
Novel oral findings in Schimmelpenning syndrome. 57
17366580 2007
24
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 6
17054105 2007
25
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 6
16443854 2006
26
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? 57
16222671 2005
27
Germline mutations in HRAS proto-oncogene cause Costello syndrome. 6
16170316 2005
28
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. 57
15742370 2005
29
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
30
Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome? 6
11150980 2001
31
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 6
7773929 1995
32
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. 57
7625436 1995
33
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. 6
8439212 1993
34
Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype. 57
1621754 1992
35
How many epidermal nevus syndromes exist? A clinicogenetic classification. 57
1918493 1991
36
Familial nevus sebaceus. 57
2365865 1990
37
Varieties of expression of tuberous sclerosis. 57
3078652 1988
38
Neurologic complications of the epidermal nevus syndrome. 57
3813938 1987
39
Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter. 57
3740101 1986
40
Cutaneous manifestation of lethal genes. 57
3957353 1986
41
Familial naevus sebaceus. 57
7108885 1982
42
Jadassohn's naevus phakomatosis: 2. A study based on a review of thirty-seven cases. 57
671530 1978
43
Jadassohn's naevus phakomatosis: I. A report of two cases. 57
671535 1978
44
Rescue of a lethal T/t locus genotype by chimaerism with normal embryos. 57
692659 1978
45
Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. 57
195029 1977
46
Linear nevus sebaceus with convulsions and mental retardation. 57
13944982 1962
47
Dermoscopy of collision tumor arising in nevus sebaceus of Jadassohn. 61
33532530 2021
48
A Rare Case of Porocarcinoma and Trichoblastoma Arising in a Nevus Sebaceus of Jadassohn. 61
33763265 2021
49
Nevus sebaceus of Jadassohn - high frequency ultrasound imaging and videodermoscopy examination. Case presentation. 61
33629058 2021
50
The spectrum of benign and malignant neoplasms in Schimmelpenning-Feuerstein-Mims syndrome. 61
32893445 2020

Variations for Schimmelpenning-Feuerstein-Mims Syndrome

ClinVar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12612 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
2 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
3 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
4 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
5 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic 12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
6 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
7 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
8 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
9 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
10 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic 12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
11 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
12 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
13 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 12583 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
14 HRAS , LRRC56 NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 160364 rs121913233 GRCh37: 11:533874-533874
GRCh38: 11:533874-533874
15 KRAS NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) SNV Likely pathogenic 376325 rs121913236 GRCh37: 12:25398255-25398255
GRCh38: 12:25245321-25245321
16 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain significance 626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
17 HRAS , LRRC56 NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely benign 40448 rs397517144 GRCh37: 11:532686-532686
GRCh38: 11:532686-532686

UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 HRAS p.Gly13Arg VAR_068817 rs104894228
2 KRAS p.Gly12Asp VAR_016026 rs121913529

Expression for Schimmelpenning-Feuerstein-Mims Syndrome

Search GEO for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome.

Pathways for Schimmelpenning-Feuerstein-Mims Syndrome

Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 NRAS MEPE KRAS HRAS GNAT1 GNAS
2
Show member pathways
13.58 NRAS KRAS HRAS GNAT1 GNAS FGFR3
3
Show member pathways
13.44 NRAS KRAS HRAS GNAT1 GNAS FGFR3
4
Show member pathways
13.34 NRAS KRAS HRAS GNAT1 GNAS FGFR3
5
Show member pathways
13.3 NRAS KRAS HRAS GNAS FGFR3 FGFR1
6
Show member pathways
13.05 NRAS KRAS HRAS GNAS FGFR3 FGFR1
7
Show member pathways
12.96 NRAS KRAS HRAS GNAS FGFR3 FGFR1
8
Show member pathways
12.9 NRAS KRAS HRAS GNAS FGFR3 FGFR1
9
Show member pathways
12.9 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
10
Show member pathways
12.87 NRAS MEPE KRAS HRAS GNAT1 GNAS
11
Show member pathways
12.82 NRAS KRAS HRAS GNAT1 GNAS
12
Show member pathways
12.79 NRAS KRAS HRAS FGFR1 FGF23
13 12.78 NRAS KRAS HRAS GNAS FGFR3 FGFR1
14 12.77 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
15
Show member pathways
12.72 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
16
Show member pathways
12.69 NRAS KRAS HRAS GNAT1 GNAS
17
Show member pathways
12.67 NRAS KRAS HRAS GNAS FGFR3 FGFR1
18
Show member pathways
12.65 NRAS KRAS HRAS GNAS FGFR1 FGF23
19 12.59 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
20
Show member pathways
12.55 NRAS KRAS HRAS FGFR3 FGFR1
21
Show member pathways
12.54 NRAS KRAS HRAS FGFR3 FGFR1
22
Show member pathways
12.5 NRAS KRAS HRAS GNAS
23
Show member pathways
12.47 NRAS KRAS HRAS FGFR3 FGFR1
24
Show member pathways
12.46 NRAS KRAS HRAS GALNT3 FGFR3 FGFR1
25
Show member pathways
12.42 HRAS FGFR3 FGFR1 FGF23
26
Show member pathways
12.42 NRAS KRAS HRAS GNAS
27 12.41 GNAS FGFR3 FGFR1 FGF23
28
Show member pathways
12.41 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
29 12.33 NRAS KRAS HRAS FGFR1
30
Show member pathways
12.32 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
31
Show member pathways
12.28 NRAS KRAS HRAS FGFR3 FGFR1
32
Show member pathways
12.18 NRAS KRAS HRAS GNAS
33 12.05 NRAS KRAS HRAS FGFR3 FGFR1
34 12.02 NRAS KRAS HRAS GNAS
35
Show member pathways
11.98 NRAS KRAS HRAS GNAS
36 11.97 SLC34A3 GNAS FGFR1 FGF23
37 11.91 NRAS KRAS HRAS
38
Show member pathways
11.88 NRAS KRAS HRAS
39 11.84 NRAS KRAS HRAS GNAS
40
Show member pathways
11.83 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
41
Show member pathways
11.81 NRAS KRAS HRAS FGFR1 FGF23
42
Show member pathways
11.8 NRAS KRAS HRAS FGFR1
43 11.76 NRAS KRAS HRAS
44 11.73 NRAS KRAS HRAS
45 11.72 NRAS KRAS HRAS FGFR3
46
Show member pathways
11.71 NRAS KRAS HRAS
47 11.7 FGFR3 FGFR1 ENPP1
48 11.69 NRAS KRAS HRAS
49
Show member pathways
11.65 GALNT3 FGFR3 FGF23
50 11.64 NRAS KRAS HRAS

GO Terms for Schimmelpenning-Feuerstein-Mims Syndrome

Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.92 KRAS HRAS FGFR3 FGFR1 FGF23
2 Ras protein signal transduction GO:0007265 9.67 NRAS KRAS HRAS
3 positive regulation of MAP kinase activity GO:0043406 9.58 KRAS HRAS FGFR1
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 GALNT3 FGFR3 FGFR1 FGF23
5 skeletal system development GO:0001501 9.55 PHEX MEPE GNAS FGFR3 FGFR1
6 cellular response to vitamin D GO:0071305 9.54 PHEX FGF23
7 biomineral tissue development GO:0031214 9.54 PHEX MEPE ENPP1
8 positive regulation of phospholipase C activity GO:0010863 9.51 HRAS FGFR1
9 cellular response to parathyroid hormone stimulus GO:0071374 9.48 PHEX FGF23
10 positive regulation of phospholipase activity GO:0010518 9.46 FGFR3 FGFR1
11 response to isolation stress GO:0035900 9.43 KRAS HRAS
12 MAPK cascade GO:0000165 9.43 NRAS KRAS HRAS FGFR3 FGFR1 FGF23
13 response to sodium phosphate GO:1904383 9.32 PHEX FGF23
14 cellular phosphate ion homeostasis GO:0030643 8.8 SLC34A3 FGF23 ENPP1

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.97 NRAS KRAS HRAS GNAT1 GNAS FGFR3
2 GTP binding GO:0005525 9.72 NRAS KRAS HRAS GNAT1 GNAS
3 GTPase activity GO:0003924 9.35 NRAS KRAS HRAS GNAT1 GNAS
4 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR3 FGFR1
5 acetyl-CoA C-acetyltransferase activity GO:0003985 9.16 ACAT2 ACAA2
6 GDP binding GO:0019003 8.92 NRAS KRAS HRAS GNAT1

Sources for Schimmelpenning-Feuerstein-Mims Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....