Autoimmunity, and Smooth philtrum

Diseases related with Autoimmunity and Smooth philtrum

In the following list you will find some of the most common rare diseases related to Autoimmunity and Smooth philtrum that can help you solving undiagnosed cases.


Top matches:

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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Other less relevant matches:

Low match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Low match HERMANSKY-PUDLAK SYNDROME 10; HPS10


Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Low match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Low match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Low match MENTAL RETARDATION, X-LINKED 107; MRX107


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Abnormal facial shape
  • Behavioral abnormality
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 107; MRX107

Low match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Smooth philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Abnormal facial shape Thin upper lip vermilion Posteriorly rotated ears Wide nasal bridge Microcephaly Short stature Epicanthus Hypertelorism Short nose Immunodeficiency Vomiting Pneumonia Upslanted palpebral fissure Long face Ptosis Cerebral atrophy Motor delay Growth delay Confusion Delayed speech and language development Muscular hypotonia of the trunk Depressed nasal bridge Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Small for gestational age Synophrys Splenomegaly Hepatomegaly Nystagmus Short chin Short philtrum Prominent nasal bridge Tented upper lip vermilion Pointed chin Narrow forehead Mandibular prognathia Intellectual disability, mild Postnatal growth retardation Telecanthus Abnormal cardiac septum morphology Hearing impairment Strabismus Spasticity Downslanted palpebral fissures Abnormality of the nervous system Narrow face Clinodactyly High forehead Irritability Lethargy Ocular albinism Coma Gliosis Brachycephaly Broad-based gait Dehydration Polydipsia Polyuria Albinism Hypotelorism Neutropenia Macrotia Intrauterine growth retardation Peripheral neuropathy Recurrent infections Failure to thrive Recurrent respiratory infections Diabetes mellitus Retrognathia Hepatosplenomegaly Anteverted nares Hepatic failure Polydactyly Carcinoma Abnormal heart morphology Congenital neutropenia Mental deterioration Granulocytopenia Aciduria Stroke Postaxial polydactyly Periodontitis Encephalopathy Sacral dimple Hypoplasia of the corpus callosum Pes planus Abnormality of the pinna High, narrow palate Small hand Triangular face Broad nasal tip Decreased body weight Hemivertebrae Deep palmar crease Hypospadias Macrodontia Malar rash Intermittent thrombocytopenia Nevus flammeus of the forehead Decreased head circumference Ataxia Edema Headache Abnormality of cardiovascular system morphology Severe intrauterine growth retardation Oroticaciduria Thick lower lip vermilion Behavioral abnormality Sparse scalp hair Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Fair hair Broad philtrum Broad eyebrow Craniofacial asymmetry Hyperactivity Flat face Autistic behavior Narrow philtrum Visual impairment Thrombocytopenia Reduced visual acuity Coarse facial features Photophobia Conductive hearing impairment Respiratory tract infection Carious teeth Hip dysplasia Recurrent bacterial infections Tapered finger Thin vermilion border Pancreatitis Protein avoidance Hyperammonemia Acute hepatic failure Alkalosis Episodic ataxia Cerebral edema Episodic vomiting Wide nasal base Paranoia Pulmonary fibrosis Respiratory alkalosis Hypoargininemia Hyperglutaminemia Congenital cataract Interstitial pneumonitis Acetabular dysplasia Low plasma citrulline Sensorineural hearing impairment Cataract Brachydactyly Malar flattening Midface retrusion Narrow mouth Camptodactyly Microtia Nail dystrophy Episodic ammonia intoxication Highly arched eyebrow High palate Radial deviation of finger Muscle weakness Flexion contracture Downturned corners of mouth Hypsarrhythmia Progressive neurologic deterioration Aspiration Type I diabetes mellitus Failure to thrive in infancy Bilateral ptosis Hyperglycemia Abnormality of the anterior pituitary Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Ketoacidosis Aspiration pneumonia Mild global developmental delay Autoimmune antibody positivity Limb joint contracture Pancreatic hypoplasia Beta-cell dysfunction Germinoma Hypertonic dehydration Thickened ears Dry skin Neoplasm Fever Fatigue Abnormality of metabolism/homeostasis Constipation Osteoporosis Weight loss Osteopenia Vertigo Nocturia Wide nose Syncope Growth hormone deficiency Hypotension Diabetes insipidus Orthostatic hypotension Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Transient neonatal diabetes mellitus Elevated hemoglobin A1c Pierre-Robin sequence Acne Deeply set eye Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Oral cleft Bulbous nose Everted lower lip vermilion Convex nasal ridge Laryngomalacia Biparietal narrowing Inguinal hernia Everted upper lip vermilion Feeding difficulties Dystonia EEG abnormality Generalized tonic-clonic seizures Generalized myoclonic seizures Abnormal bleeding Delayed myelination Interstitial pulmonary abnormality Arachnoid cyst Autism Kyphosis Clinodactyly of the 4th finger Thick eyebrow Hyperreflexia Dysarthria Intellectual disability, severe Myopathy Hypertonia Elevated serum creatine phosphokinase Pes cavus Sparse hair Blepharophimosis Prominent nose Atrial septal defect Underdeveloped nasal alae Esotropia Eczema Progressive microcephaly Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Scoliosis Cleft palate Ventricular septal defect Aberrant melanosome maturation



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