SFM
MCID: SCH078
MIFTS: 62

Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome:

Name: Schimmelpenning-Feuerstein-Mims Syndrome 57 73
Nevus Sebaceus of Jadassohn 57 11 19 58 75 73
Linear Nevus Sebaceous Syndrome 11 19 28 5 14
Organoid Nevus Phakomatosis 57 11 19 73 71
Jadassohn Nevus Phakomatosis 57 11 19 73
Schimmelpenning Syndrome 11 58 73 75
Sfm Syndrome 57 11 19 73
Jnp 57 11 19 73
Solomon Syndrome 11 58 73
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 57 38
Schimmelpenning Feuerstein Mims Syndrome 11 19
Linear Sebaceous Nevus Syndrome 57 73
Nevus Sebaceus Syndrome 11 58
Organoid Nevus Syndrome 11 58
Sfm 57 73
Epidermal Nevus Syndrome, Formerly 57
Sebaceous Nevus Syndrome, Linear 57
Sebaceous Nevus Syndrome Linear 19
Linear Nevus Sebaceus Syndrome 58
Epidermal Nevus Syndrome 73
Nevus Sebaceous 71
Ss 73

Characteristics:


Inheritance:

Somatic mosaicism 57

Age Of Onset:

Linear Nevus Sebaceus Syndrome: Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of skin lesions at birth
extracutaneous manifestations are variable
secondary tumors develop within the skin lesions


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Schimmelpenning-Feuerstein-Mims Syndrome

GARD: 19 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 genetic change in any of several genes. Genetic changes that cause LNSS occur after fertilization and are only present in some body cells (mosaicism).

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to melanocytic nevus syndrome, congenital and ras-associated autoimmune leukoproliferative disorder, 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 Disease. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and seizure

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.

Wikipedia 75 Nevus sebaceus of jadassohn: Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more...

Schimmelpenning syndrome: Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi,... 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 448)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 31.1 NRAS LRRC56 HRAS
2 ras-associated autoimmune leukoproliferative disorder 31.1 NRAS KRAS HRAS
3 syringocystadenoma papilliferum 31.0 HRAS ERAS
4 adenoma 30.9 PIK3CA KRAS HRAS GNAS
5 lymphangioma 30.8 PIK3CA KRAS HRAS
6 juvenile myelomonocytic leukemia 30.8 NRAS NF1 KRAS HRAS
7 hypophosphatemic rickets, x-linked recessive 30.7 SLC34A3 PHEX MEPE FGF23 ENPP1
8 oculoectodermal syndrome 30.7 KRAS HRAS FGFR1
9 encephalocraniocutaneous lipomatosis 30.7 KRAS FGFR1
10 neurofibromatosis, type i 30.7 NRAS NF1 KRAS HRAS
11 neurofibromatosis 30.7 NRAS NF1 KRAS HRAS
12 large congenital melanocytic nevus 30.6 NRAS LRRC56 HRAS
13 lipomatosis 30.6 PIK3CA KRAS FGFR1
14 arteriovenous malformation 30.6 NF1 LRRC56 HRAS
15 cutaneous-skeletal hypophosphatemia syndrome 30.5 LRRC56 HRAS
16 rickets 30.5 SLC34A3 PHEX MEPE GALNT3 FGF23 ENPP1
17 squamous cell carcinoma 30.4 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
18 osteomalacia 30.3 SLC34A3 PHEX MEPE FGF23 ENPP1
19 bone disease 30.3 PHEX FGFR3 FGFR1 FGF23
20 rhabdomyosarcoma 30.3 PIK3CA NRAS NF1 LRRC56 KRAS HRAS
21 proteus syndrome 30.3 PIK3CA NF1 HRAS GNAS FGFR3
22 adenoid cystic carcinoma 30.2 PIK3CA LRRC56 KRAS HRAS
23 mccune-albright syndrome 30.2 PHEX NF1 MEPE GNAS GALNT3 FGF23
24 hypomelanosis of ito 30.1 VBP1 NF1
25 rasopathy 30.1 PIK3CA NRAS NF1 LRRC56 KRAS HRAS
26 pilocytic astrocytoma 30.1 NRAS NF1 KRAS HRAS FGFR1
27 hypophosphatemia 30.1 SLC34A3 PHEX MEPE GNAS FGFR1 FGF23
28 bladder cancer 30.0 PIK3CA NRAS LRRC56 KRAS HRAS FGFR3
29 bladder urothelial carcinoma 29.9 PIK3CA NRAS LRRC56 KRAS HRAS FGFR3
30 plasma cell neoplasm 29.8 PIK3CA NRAS NF1 LRRC56 KRAS HRAS
31 myeloma, multiple 29.8 PIK3CA NRAS NF1 LRRC56 KRAS HRAS
32 nevus, epidermal 29.8 PIK3CA PHEX NRAS NF1 MEPE LRRC56
33 hypophosphatemic rickets, x-linked dominant 29.8 SLC34A3 PHEX MEPE GALNT3 FGFR1 FGF23
34 costello syndrome 29.7 PIK3CA NRAS NF1 LRRC56 KRAS HRAS
35 becker nevus syndrome 11.5
36 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.5
37 hemimegalencephaly 11.4
38 didymosis aplasticosebacea 11.3
39 cowden syndrome 1 11.2
40 basal cell carcinoma 10.6
41 strabismus 10.5
42 cataract 10.5
43 precocious puberty 10.5
44 coloboma of macula 10.5
45 childhood leptomeningeal melanoma 10.4 NRAS HRAS
46 trachea carcinoma in situ 10.4 KRAS HRAS
47 epidermolytic nevus 10.4 NRAS FGFR3
48 ampulla of vater benign neoplasm 10.4 KRAS HRAS
49 malignant anus melanoma 10.4 NRAS HRAS
50 endometrial mucinous adenocarcinoma 10.4 KRAS GNAS

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 30 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
3 hyperreflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001347
4 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
5 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
6 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
7 genu recurvatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002816
8 biparietal narrowing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004422
9 prominent occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000269
10 melanocytic nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000995
11 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001596
12 reduced tendon reflexes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001315
13 iris coloboma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000612
14 microphthalmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000568
15 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000506
16 vertebral segmentation defect 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003422
17 cavernous hemangioma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001048
18 adenoma sebaceum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009720
19 asymmetric growth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100555
20 facial asymmetry 58 30 Frequent (33%) Frequent (79-30%)
HP:0000324
21 abnormality of vision 58 30 Frequent (33%) Frequent (79-30%)
HP:0000504
22 plagiocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001357
23 irregular hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007400
24 porencephalic cyst 30 Frequent (33%) HP:0002132
25 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
26 growth delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001510
27 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
28 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
29 precocious puberty 30 Occasional (7.5%) HP:0000826
30 corneal opacity 30 Occasional (7.5%) HP:0007957
31 ophthalmoplegia 30 Occasional (7.5%) HP:0000602
32 hyperphosphaturia 30 Occasional (7.5%) HP:0003109
33 osteopenia 30 HP:0000938
34 short stature 30 HP:0004322
35 ichthyosis 30 HP:0008064
36 horseshoe kidney 30 HP:0000085
37 coarctation of aorta 30 HP:0001680
38 kyphoscoliosis 30 HP:0002751
39 abnormality of the eye 58 Frequent (79-30%)
40 aplasia/hypoplasia of the cerebellum 58 Very frequent (99-80%)
41 ventriculomegaly 58 Very frequent (99-80%)
42 recurrent fractures 30 HP:0002757
43 abnormality of dental morphology 30 HP:0006482
44 hemangioma 30 HP:0001028
45 abnormality of finger 30 HP:0001167
46 hemihypertrophy 30 HP:0001528
47 hypopigmentation of the skin 30 HP:0001010
48 basal cell carcinoma 30 HP:0002671
49 abnormality of dental color 30 HP:0011073
50 porencephaly 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteopenia
recurrent fractures
bone deformities

Genitourinary Kidneys:
horseshoe kidney

Skeletal Spine:
kyphoscoliosis

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

Neurologic Central Nervous System:
hemimegalencephaly
seizures
mental retardation
neurologic abnormalities in about 7%

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

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

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 08-Dec-2022)

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome:


seizures

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

25 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.76 HRAS KRAS PIK3CA
2 Decreased viability GR00055-A-2 10.76 HRAS KRAS PIK3CA
3 Decreased viability GR00055-A-3 10.76 KRAS
4 Decreased viability GR00106-A-0 10.76 KRAS
5 Decreased viability GR00221-A-1 10.76 FGFR1 FGFR3 HRAS KRAS NF1 PIK3CA
6 Decreased viability GR00221-A-2 10.76 FGFR1 FGFR3 HRAS KRAS NF1 PIK3CA
7 Decreased viability GR00221-A-3 10.76 FGFR3 HRAS NRAS
8 Decreased viability GR00221-A-4 10.76 NF1 PIK3CA
9 Decreased viability GR00249-S 10.76 FGFR3 NF1
10 Decreased viability GR00301-A 10.76 KRAS
11 Decreased viability GR00381-A-1 10.76 KRAS
12 Decreased viability GR00386-A-1 10.76 FGFR1 NF1
13 Decreased viability GR00402-S-2 10.76 PIK3CA
14 no effect GR00402-S-1 10.19 EMP1 ENPP1 ERAS FGF23 FGFR1 FGFR3
15 no effect GR00402-S-2 10.19 EMP1 ERAS FGF23 FGFR1 FGFR3 GALNT3
16 Increased cell migration GR00055-A-1 9.55 NF1 ENPP1
17 Increased cell migration GR00055-A-3 9.55 NF1
18 Reduced mammosphere formation GR00396-S 9.5 GALNT3 GNAS HRAS KRAS MEPE NRAS

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 EMP1 ENPP1 FGF23 FGFR1 FGFR3 GALNT3
2 growth/size/body region MP:0005378 10.28 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
3 renal/urinary system MP:0005367 10.26 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
4 normal MP:0002873 10.2 EMP1 FGFR1 FGFR3 GNAS HRAS KRAS
5 limbs/digits/tail MP:0005371 10.19 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
6 digestive/alimentary MP:0005381 10.15 FGF23 FGFR1 FGFR3 GALNT3 GNAS HRAS
7 muscle MP:0005369 10.11 ENPP1 FGFR1 GALNT3 GNAS HRAS KRAS
8 neoplasm MP:0002006 10.1 FGFR3 GNAS HRAS KRAS NF1 NRAS
9 endocrine/exocrine gland MP:0005379 10.1 FGF23 FGFR1 GALNT3 GNAS HRAS KRAS
10 no phenotypic analysis MP:0003012 10.08 FGFR1 FGFR3 GNAS HRAS KRAS NRAS
11 cardiovascular system MP:0005385 10.03 ENPP1 FGF23 FGFR1 GALNT3 GNAS HRAS
12 craniofacial MP:0005382 10.02 ENPP1 FGFR1 FGFR3 GALNT3 GNAS HRAS
13 hearing/vestibular/ear MP:0005377 10 ENPP1 FGFR1 FGFR3 GNAS KRAS NF1
14 immune system MP:0005387 9.97 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
15 skeleton MP:0005390 9.8 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS
16 integument MP:0010771 9.4 ENPP1 FGF23 FGFR1 FGFR3 GALNT3 GNAS

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 3
2 Antibodies Phase 3
3 Antibodies, Monoclonal Phase 3
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 Completed 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 and a Post-marketing Study of KRN23 Switched From the Phase 2 Trial Completed 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

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome

Genetic tests related to Schimmelpenning-Feuerstein-Mims Syndrome:

# Genetic test Affiliating Genes
1 Linear Nevus Sebaceous Syndrome 28 HRAS KRAS NRAS

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome

Organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome:

MalaCards : Skin, Eye, Bone, Tongue, Heart, Brain, Kidney

Publications for Schimmelpenning-Feuerstein-Mims Syndrome

Articles related to Schimmelpenning-Feuerstein-Mims Syndrome:

(show top 50) (show all 467)
# Title Authors PMID Year
1
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 62 57 5
22683711 2012
2
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 62 57 5
20949522 2010
3
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. 62 57 5
12835555 2003
4
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 57 5
24006476 2014
5
Novel oral findings in Schimmelpenning syndrome. 62 57
17366580 2007
6
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? 62 57
16222671 2005
7
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. 62 57
15742370 2005
8
Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. 62 57
9007330 1996
9
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. 62 57
7625436 1995
10
Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype. 62 57
1621754 1992
11
How many epidermal nevus syndromes exist? A clinicogenetic classification. 62 57
1918493 1991
12
Familial nevus sebaceus of Jadassohn: occurrence in three generations. 62 57
2347973 1990
13
Neurologic complications of the epidermal nevus syndrome. 62 57
3813938 1987
14
Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. 62 57
195029 1977
15
Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? 62 57
4969985 1968
16
LIFE HISTORY OF ORGANOID NEVI. SPECIAL REFERENCE TO NEVUS SEBACEUS OF JADASSOHN. 62 57
14295518 1965
17
Activating HRAS mutation in nevus spilus. 5
24390138 2014
18
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. 5
24129065 2014
19
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 5
23392294 2013
20
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. 5
23884457 2013
21
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 5
22499344 2012
22
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 5
21079152 2011
23
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 5
20805368 2010
24
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 5
18633438 2009
25
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 5
17704260 2007
26
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 5
17332249 2007
27
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 5
12727991 2003
28
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 5
7773929 1995
29
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. 5
8439212 1993
30
Familial nevus sebaceus. 57
2365865 1990
31
Varieties of expression of tuberous sclerosis. 57
3078652 1988
32
Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter. 57
3740101 1986
33
Cutaneous manifestation of lethal genes. 57
3957353 1986
34
Familial naevus sebaceus. 57
7108885 1982
35
Jadassohn's naevus phakomatosis: I. A report of two cases. 57
671535 1978
36
Jadassohn's naevus phakomatosis: 2. A study based on a review of thirty-seven cases. 57
671530 1978
37
Rescue of a lethal T/t locus genotype by chimaerism with normal embryos. 57
692659 1978
38
Linear nevus sebaceus with convulsions and mental retardation. 57
13944982 1962
39
A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets. 62
35899095 2022
40
Schimmelpenning-Feuerstein-Mims syndrome: A case series and brief literature review of genetically ascertained cases. 62
36377817 2022
41
Synchronous odontogenic tumors: A systematic review. 62
36218070 2022
42
Sleep Problems in Children With Neurocutaneous Syndromes: A Cross-Sectional Study. 62
35918819 2022
43
Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature. 62
36171624 2022
44
Sebaceous nevus of Jadassohn: review and clinical-surgical approach. 62
35863943 2022
45
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies. 62
35409398 2022
46
Searching beyond nevi - A rare case of neurocutaneous ocular syndrome. 62
35298322 2022
47
Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey. 62
34972725 2022
48
Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation. 62
34435383 2022
49
Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome. 62
34254724 2021
50
Linear Nevus Sebaceous Syndrome in a Child With Infantile Spasms and Focal Cortical Dysplasia. 62
34650868 2021

Variations for Schimmelpenning-Feuerstein-Mims Syndrome

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

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic
12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
2 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic
12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
3 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic
12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
4 HRAS, LRRC56 NM_005343.4(HRAS):c.179G>T (p.Gly60Val) SNV Pathogenic
391700 rs730880460 GRCh37: 11:533877-533877
GRCh38: 11:533877-533877
5 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
6 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic
12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
7 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic
35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
8 HRAS, LRRC56 NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic
160364 rs121913233 GRCh37: 11:533874-533874
GRCh38: 11:533874-533874
9 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic
13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
10 KRAS NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) SNV Likely Pathogenic
376325 rs121913236 GRCh37: 12:25398255-25398255
GRCh38: 12:25245321-25245321
11 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain Significance
626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
12 HRAS, LRRC56 NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely Benign
40448 rs397517144 GRCh37: 11:532686-532686
GRCh38: 11:532686-532686
13 HRAS, LRRC56 NM_005343.4(HRAS):c.398T>A (p.Leu133His) SNV Not Provided
409951 rs766801436 GRCh37: 11:533505-533505
GRCh38: 11:533505-533505

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

73
# 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 98)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 NRAS NF1 MEPE KRAS HRAS GNAS
2
Show member pathways
13.85 SLC34A3 PIK3CA NRAS NF1 KRAS HRAS
3 13.84 PIK3CA NRAS NF1 KRAS HRAS GNAS
4
Show member pathways
13.6 PIK3CA NRAS KRAS HRAS GNAS FGFR3
5
Show member pathways
13.53 PIK3CA NRAS NF1 KRAS HRAS GNAS
6
Show member pathways
13.46 FGF23 FGFR1 FGFR3 GNAS HRAS KRAS
7
Show member pathways
13.44 PIK3CA NRAS NF1 KRAS HRAS FGFR3
8
Show member pathways
13.38 FGF23 FGFR1 FGFR3 GNAS HRAS KRAS
9
Show member pathways
13.34 FGF23 FGFR1 FGFR3 GNAS HRAS KRAS
10
Show member pathways
13.13 NRAS MEPE KRAS HRAS GNAS FGFR3
11
Show member pathways
13.12 NRAS KRAS HRAS GNAS FGFR3 FGFR1
12
Show member pathways
13.02 FGF23 FGFR1 FGFR3 HRAS KRAS NRAS
13
Show member pathways
12.98 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
14
Show member pathways
12.93 PIK3CA NRAS KRAS HRAS GNAS
15
Show member pathways
12.93 FGFR1 FGFR3 GNAS HRAS KRAS NRAS
16
Show member pathways
12.91 PIK3CA NRAS KRAS HRAS GNAS
17 12.86 FGF23 FGFR1 FGFR3 GALNT3 HRAS KRAS
18 12.76 PIK3CA HRAS FGFR3 FGFR1 FGF23
19
Show member pathways
12.76 FGF23 FGFR1 FGFR3 HRAS KRAS NRAS
20
Show member pathways
12.75 PIK3CA NRAS NF1 KRAS HRAS FGFR3
21
Show member pathways
12.71 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
22
Show member pathways
12.56 PIK3CA NRAS KRAS HRAS GALNT3 FGFR3
23
Show member pathways
12.55 HRAS KRAS NRAS PIK3CA
24
Show member pathways
12.51 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
25
Show member pathways
12.47 PIK3CA NRAS KRAS HRAS
26
Show member pathways
12.47 PIK3CA NRAS KRAS HRAS
27
Show member pathways
12.46 PIK3CA NRAS KRAS HRAS
28
Show member pathways
12.46 FGF23 FGFR1 FGFR3 HRAS KRAS NRAS
29
Show member pathways
12.45 HRAS FGFR3 FGFR1 FGF23
30
Show member pathways
12.45 PIK3CA NF1 KRAS HRAS
31 12.43 NRAS NF1 KRAS HRAS FGFR3 FGFR1
32
Show member pathways
12.41 FGF23 FGFR1 FGFR3 HRAS KRAS NRAS
33
Show member pathways
12.38 PIK3CA NRAS KRAS HRAS
34
Show member pathways
12.37 PIK3CA HRAS GNAS FGFR1
35
Show member pathways
12.37 PIK3CA NRAS KRAS HRAS
36
Show member pathways
12.31 PIK3CA NRAS KRAS HRAS
37
Show member pathways
12.3 NRAS KRAS HRAS FGFR3 FGFR1
38
Show member pathways
12.3 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
39
Show member pathways
12.28 PIK3CA NRAS KRAS HRAS
40
Show member pathways
12.27 PIK3CA NRAS KRAS HRAS
41
Show member pathways
12.22 NRAS NF1 KRAS HRAS
42
Show member pathways
12.2 HRAS KRAS NRAS PIK3CA
43
Show member pathways
12.2 NRAS KRAS HRAS GNAS
44
Show member pathways
12.19 PIK3CA NRAS KRAS HRAS FGFR3 FGFR1
45 12.18 PIK3CA NRAS KRAS FGFR3 FGFR1 FGF23
46
Show member pathways
12.17 PIK3CA NRAS KRAS HRAS
47 12.17 PIK3CA NRAS NF1 KRAS HRAS FGFR3
48
Show member pathways
12.15 PIK3CA NRAS KRAS HRAS
49
Show member pathways
12.12 PIK3CA NRAS KRAS HRAS
50 12.07 NRAS NF1 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 12)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.06 PHEX MEPE FGFR3 FGFR1
2 bone mineralization GO:0030282 9.95 PHEX FGFR3 ENPP1
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.86 GALNT3 FGFR3 FGFR1 FGF23
4 response to sodium phosphate GO:1904383 9.81 PHEX FGF23
5 positive regulation of phospholipase activity GO:0010518 9.8 FGFR3 FGFR1
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.8 HRAS KRAS NF1
7 biomineral tissue development GO:0031214 9.73 PHEX MEPE ENPP1
8 forebrain astrocyte development GO:0021897 9.71 NF1 KRAS
9 Ras protein signal transduction GO:0007265 9.65 NRAS NF1 KRAS HRAS ERAS
10 cellular phosphate ion homeostasis GO:0030643 9.63 SLC34A3 FGF23 ENPP1
11 MAPK cascade GO:0000165 9.44 NRAS NF1 KRAS HRAS FGFR3 FGFR1
12 cellular response to endogenous stimulus GO:0071495 9.37 FGFR3 FGFR1

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 9.76 PIK3CA NRAS KRAS HRAS GNAS FGFR3
2 fibroblast growth factor receptor activity GO:0005007 9.56 FGFR3 FGFR1
3 GDP binding GO:0019003 9.56 NRAS KRAS HRAS ERAS
4 protein serine/threonine kinase activator activity GO:0043539 9.5 PIK3CA KRAS HRAS
5 G protein activity GO:0003925 9.23 NRAS KRAS HRAS ERAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome

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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