Muscle weakness, and Pruritus

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

• Generalized hypotonia
• Failure to thrive
• Muscle weakness
• Pain
• Motor delay

SOURCES: ORPHANET OMIM MENDELIAN

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

• Neoplasm
• Pain
• Coloboma
• Pruritus
• Hypopigmentation of the skin

SOURCES: OMIM MENDELIAN

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Nystagmus

SOURCES: MESH OMIM MENDELIAN

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

• Seizures
• Muscle weakness
• Pain
• Anemia
• Hypertension

SOURCES: MESH ORPHANET OMIM MENDELIAN

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

• Intellectual disability
• Growth delay
• Neoplasm
• Failure to thrive
• Spasticity

SOURCES: MESH OMIM ORPHANET MENDELIAN

Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

• Hyperhidrosis
• Erythema
• Scarring
• Pruritus
• Abnormal blistering of the skin

SOURCES: OMIM MENDELIAN

• Seizures
• Generalized hypotonia
• Microcephaly
• Spasticity
• Hyperreflexia

SOURCES: OMIM MENDELIAN

• Hyperkeratosis
• Erythema
• Pruritus
• Ichthyosis
• Scaling skin

SOURCES: OMIM MENDELIAN

• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MESH MENDELIAN

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

• Edema
• Erythema
• Pruritus
• Cirrhosis
• Eczema

SOURCES: ORPHANET MENDELIAN